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Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.50242281G= , CM000677.2:g.50242281G=
GRCh38
NC_000015.9:g.50534478G= , CM000677.1:g.50534478G=
GRCh37
NC_000015.8:g.48321770G=
NCBI36
NG_027487.1:g.28685C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000267845.8:c.1968C=
MANE Select
ENSP00000267845.3:p.Cys656=
ENST00000267845.7:c.1968C=
ENSP00000267845.3:p.Cys656=
ENST00000543581.5:c.1869C=
ENSP00000440252.1:p.Cys623=
ENST00000559816.1:n.1712C=
NM_001306146.1:c.1869C=
NP_001293075.1:p.Cys623=
NM_002112.3:c.1968C=
NP_002103.2:p.Cys656=
XM_011521479.1:c.1731C=
XP_011519781.1:p.Cys577=
XM_011521480.1:c.1536C=
XP_011519782.1:p.Cys512=
XM_017022094.1:c.2073C=
XP_016877583.1:p.Cys691=
XM_017022095.1:c.1974C=
XP_016877584.1:p.Cys658=
XM_017022096.1:c.1845C=
XP_016877585.1:p.Cys615=
XM_017022097.1:c.1836C=
XP_016877586.1:p.Cys612=
XM_017022098.1:c.1641C=
XP_016877587.1:p.Cys547=
NM_002112.4:c.1968C=
MANE Select
NP_002103.2:p.Cys656=
NM_001306146.2:c.1869C=
NP_001293075.1:p.Cys623=