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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242302A= , CM000677.2:g.50242302A=
GRCh38
NC_000015.9:g.50534499A= , CM000677.1:g.50534499A=
GRCh37
NC_000015.8:g.48321791A=
NCBI36
NG_027487.1:g.28664T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1947T=
MANE Select
ENSP00000267845.3:p.Cys649=
ENST00000267845.7:c.1947T=
ENSP00000267845.3:p.Cys649=
ENST00000543581.5:c.1848T=
ENSP00000440252.1:p.Cys616=
ENST00000559816.1:n.1691T=
NM_001306146.1:c.1848T=
NP_001293075.1:p.Cys616=
NM_002112.3:c.1947T=
NP_002103.2:p.Cys649=
XM_011521479.1:c.1710T=
XP_011519781.1:p.Cys570=
XM_011521480.1:c.1515T=
XP_011519782.1:p.Cys505=
XM_017022094.1:c.2052T=
XP_016877583.1:p.Cys684=
XM_017022095.1:c.1953T=
XP_016877584.1:p.Cys651=
XM_017022096.1:c.1824T=
XP_016877585.1:p.Cys608=
XM_017022097.1:c.1815T=
XP_016877586.1:p.Cys605=
XM_017022098.1:c.1620T=
XP_016877587.1:p.Cys540=
NM_002112.4:c.1947T=
MANE Select
NP_002103.2:p.Cys649=
NM_001306146.2:c.1848T=
NP_001293075.1:p.Cys616=