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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242308A>C , CM000677.2:g.50242308A>C
GRCh38
NC_000015.9:g.50534505A>C , CM000677.1:g.50534505A>C
GRCh37
NC_000015.8:g.48321797A>C
NCBI36
NG_027487.1:g.28658T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1941T>G
MANE Select
ENSP00000267845.3:p.Ser647=
ENST00000267845.7:c.1941T>G
ENSP00000267845.3:p.Ser647=
ENST00000543581.5:c.1842T>G
ENSP00000440252.1:p.Ser614=
ENST00000559816.1:n.1685T>G
NM_001306146.1:c.1842T>G
NP_001293075.1:p.Ser614=
NM_002112.3:c.1941T>G
NP_002103.2:p.Ser647=
XM_011521479.1:c.1704T>G
XP_011519781.1:p.Ser568=
XM_011521480.1:c.1509T>G
XP_011519782.1:p.Ser503=
XM_017022094.1:c.2046T>G
XP_016877583.1:p.Ser682=
XM_017022095.1:c.1947T>G
XP_016877584.1:p.Ser649=
XM_017022096.1:c.1818T>G
XP_016877585.1:p.Ser606=
XM_017022097.1:c.1809T>G
XP_016877586.1:p.Ser603=
XM_017022098.1:c.1614T>G
XP_016877587.1:p.Ser538=
NM_002112.4:c.1941T>G
MANE Select
NP_002103.2:p.Ser647=
NM_001306146.2:c.1842T>G
NP_001293075.1:p.Ser614=