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Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.88818013C>A , CM000678.2:g.88818013C>A
GRCh38
NC_000016.9:g.88884421C>A , CM000678.1:g.88884421C>A
GRCh37
NC_000016.8:g.87411922C>A
NCBI36
NG_008667.1:g.43954G>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000268695.10:c.1476G>T
MANE Select
ENSP00000268695.5:p.Ala492=
ENST00000268695.9:c.1476G>T
ENSP00000268695.5:p.Ala492=
ENST00000562593.5:n.4885G>T
ENST00000567525.5:c.1157G>T
ENSP00000454484.1:n.1157G>T
ENST00000568613.5:c.1595G>T
ENSP00000457921.1:n.1595G>T
NM_000512.4:c.1476G>T
NP_000503.1:p.Ala492=
XM_005256301.2:c.1476G>T
XP_005256358.1:p.Ala492=
XM_005256302.1:c.1494G>T
XP_005256359.1:p.Ala498=
XM_011522982.1:c.1494G>T
XP_011521284.1:p.Ala498=
XM_011522984.1:c.1494G>T
XP_011521286.1:p.Ala498=
NM_001323543.1:c.921G>T
NP_001310472.1:p.Ala307=
NM_001323544.1:c.1494G>T
NP_001310473.1:p.Ala498=
XM_005256301.3:c.1476G>T
XP_005256358.1:p.Ala492=
XM_011522982.2:c.1494G>T
XP_011521284.1:p.Ala498=
XM_017023111.2:c.1494G>T
XP_016878600.1:p.Ala498=
XM_017023112.2:c.1494G>T
XP_016878601.1:p.Ala498=
XM_017023113.1:c.921G>T
XP_016878602.1:p.Ala307=
NM_000512.5:c.1476G>T
MANE Select
NP_000503.1:p.Ala492=
NM_001323543.2:c.921G>T
NP_001310472.1:p.Ala307=
NM_001323544.2:c.1494G>T
NP_001310473.1:p.Ala498=