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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242299T>G , CM000677.2:g.50242299T>G
GRCh38
NC_000015.9:g.50534496T>G , CM000677.1:g.50534496T>G
GRCh37
NC_000015.8:g.48321788T>G
NCBI36
NG_027487.1:g.28667A>C
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1950A>C
MANE Select
ENSP00000267845.3:p.Gly650=
ENST00000267845.7:c.1950A>C
ENSP00000267845.3:p.Gly650=
ENST00000543581.5:c.1851A>C
ENSP00000440252.1:p.Gly617=
ENST00000559816.1:n.1694A>C
NM_001306146.1:c.1851A>C
NP_001293075.1:p.Gly617=
NM_002112.3:c.1950A>C
NP_002103.2:p.Gly650=
XM_011521479.1:c.1713A>C
XP_011519781.1:p.Gly571=
XM_011521480.1:c.1518A>C
XP_011519782.1:p.Gly506=
XM_017022094.1:c.2055A>C
XP_016877583.1:p.Gly685=
XM_017022095.1:c.1956A>C
XP_016877584.1:p.Gly652=
XM_017022096.1:c.1827A>C
XP_016877585.1:p.Gly609=
XM_017022097.1:c.1818A>C
XP_016877586.1:p.Gly606=
XM_017022098.1:c.1623A>C
XP_016877587.1:p.Gly541=
NM_002112.4:c.1950A>C
MANE Select
NP_002103.2:p.Gly650=
NM_001306146.2:c.1851A>C
NP_001293075.1:p.Gly617=