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Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.70757988C= , CM000672.2:g.70757988C=
GRCh38
NC_000010.10:g.72517744C= , CM000672.1:g.72517744C=
GRCh37
NC_000010.9:g.72187750C=
NCBI36
NG_042147.1:g.90186C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000373207.2:c.2964C=
MANE Select
ENSP00000362303.1:p.Ile988=
ENST00000373207.1:c.2964C=
ENSP00000362303.1:p.Ile988=
ENST00000373208.5:c.2973C=
ENSP00000362304.1:p.Ile991=
NM_080722.3:c.2964C=
NP_542453.2:p.Ile988=
NM_139155.2:c.2973C=
NP_631894.2:p.Ile991=
XM_011539300.1:c.2463C=
XP_011537602.1:p.Ile821=
XM_011539301.1:c.2037C=
XP_011537603.1:p.Ile679=
XM_011539302.1:c.2037C=
XP_011537604.1:p.Ile679=
XM_011539308.1:c.*43C=
XP_011537610.1:n.*43C=
XM_011539309.1:c.1533C=
XP_011537611.1:p.Ile511=
NM_080722.4:c.2964C=
MANE Select
NP_542453.2:p.Ile988=
NM_139155.3:c.2973C=
NP_631894.2:p.Ile991=
XM_011539300.2:c.2463C=
XP_011537602.1:p.Ile821=
XM_011539301.2:c.2037C=
XP_011537603.1:p.Ile679=
XM_011539302.2:c.2037C=
XP_011537604.1:p.Ile679=
XM_011539308.2:c.*43C=
XP_011537610.1:n.*43C=