# A variant that is famously known as "MTHFR C677T" or "MTHFR 677C>T" -- but the 677 is incorrect (from an old sequence ~1995): NM_005957.4:c.665C>T # Same variant in LRG transcript, protein and genomic coords: LRG_726t1:c.665C>T LRG_726p1:p.Ala222Val LRG_726:g.14783C>T # These three are equivalent (although p. is less specific): NM_003002.3:c.276C>A NP_002993.1:p.Asp92Glu NP_002993.1:p.D92E # This is not HGVS but seems to be a commonly requested format and is easy to transform into the internal representation of HGVS: ALK G1494E # More gene symbol HGVS-ish RERE:Thr758Serfs GBA1:p.Leu29Alafs*18 H6PD Val320= MTHFR Pro101_Gly102insLeuTyrIleAspValThrTrpHisProAlaGlyAspPro YARS1 p.Val153_Val156del PLOD1 Glu532del PPT1 p.Gln91_Cys96delinsPhe PLOD1:p.532 # From a user via b0b: NM_198056.3:pAla735Val NM_198056.3:pArg1512Trp NM_003098.2:c.287G>C NM_007294.3:c.2231C>A NM_007294.3(BRCA1):c.2231C>A