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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242341G>A , CM000677.2:g.50242341G>A
GRCh38
NC_000015.9:g.50534538G>A , CM000677.1:g.50534538G>A
GRCh37
NC_000015.8:g.48321830G>A
NCBI36
NG_027487.1:g.28625C>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1908C>T
MANE Select
ENSP00000267845.3:p.Phe636=
ENST00000267845.7:c.1908C>T
ENSP00000267845.3:p.Phe636=
ENST00000543581.5:c.1809C>T
ENSP00000440252.1:p.Phe603=
ENST00000559816.1:n.1652C>T
NM_001306146.1:c.1809C>T
NP_001293075.1:p.Phe603=
NM_002112.3:c.1908C>T
NP_002103.2:p.Phe636=
XM_011521479.1:c.1671C>T
XP_011519781.1:p.Phe557=
XM_011521480.1:c.1476C>T
XP_011519782.1:p.Phe492=
XM_017022094.1:c.2013C>T
XP_016877583.1:p.Phe671=
XM_017022095.1:c.1914C>T
XP_016877584.1:p.Phe638=
XM_017022096.1:c.1785C>T
XP_016877585.1:p.Phe595=
XM_017022097.1:c.1776C>T
XP_016877586.1:p.Phe592=
XM_017022098.1:c.1581C>T
XP_016877587.1:p.Phe527=
NM_002112.4:c.1908C>T
MANE Select
NP_002103.2:p.Phe636=
NM_001306146.2:c.1809C>T
NP_001293075.1:p.Phe603=