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Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.53207701C= , CM000680.2:g.53207701C=
GRCh38
NC_000018.9:g.50734071C= , CM000680.1:g.50734071C=
GRCh37
NC_000018.8:g.48988069C=
NCBI36
NG_013341.1:g.872530C=
NG_013341.2:g.872530C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000442544.7:c.1745C=
MANE Select
ENSP00000389140.2:p.Ser582=
ENST00000304775.12:c.1546C=
ENST00000412726.5:c.1676C=
ENSP00000397322.2:p.Ser559=
ENST00000442544.6:c.1745C=
ENSP00000389140.2:p.Ser582=
ENST00000581580.5:c.710C=
ENSP00000464582.1:p.Ser237=
NM_005215.3:c.1745C=
NP_005206.2:p.Ser582=
XM_011525843.1:c.1745C=
XP_011524145.1:p.Ser582=
XM_011525844.1:c.710C=
XP_011524146.1:p.Ser237=
XM_011525845.1:c.1745C=
XP_011524147.1:p.Ser582=
XM_011525846.1:c.1745C=
XP_011524148.1:p.Ser582=
XM_011525844.2:c.710C=
XP_011524146.1:p.Ser237=
XM_017025568.1:c.1745C=
XP_016881057.1:p.Ser582=
XM_017025569.1:c.1745C=
XP_016881058.1:p.Ser582=
XM_017025570.1:c.710C=
XP_016881059.1:p.Ser237=
NM_005215.4:c.1745C=
MANE Select
NP_005206.2:p.Ser582=