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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.48898794T>C , CM000665.2:g.48898794T>C
GRCh38
NC_000003.11:g.48936227T>C , CM000665.1:g.48936227T>C
GRCh37
NC_000003.10:g.48911231T>C
NCBI36
NG_008171.1:g.5103A>G
Transcript Alleles
HGVS
Amino-acid Change
NM_000387.6:c.1A>G
MANE Select
NP_000378.1:p.Met1Val
ENST00000319017.5:c.1A>G
MANE Select
ENSP00000326305.4:p.Met1Val
NM_000387.5:c.1A>G
NP_000378.1:p.Met1Val
ENST00000319017.4:c.1A>G
ENSP00000326305.4:p.Met1Val
ENST00000430379.5:c.1A>G
ENSP00000388986.1:p.Met1Val
ENST00000440964.1:c.1A>G
ENSP00000388563.1:p.Met1Val
XM_006713327.1:c.1A>G
XP_006713390.1:p.Met1Val