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Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.52403527G= , CM000665.2:g.52403527G=
GRCh38
NC_000003.11:g.52437543G= , CM000665.1:g.52437543G=
GRCh37
NC_000003.10:g.52412583G=
NCBI36
NG_031859.1:g.11467C= , LRG_529:g.11467C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000460680.6:c.1618C=
MANE Select
ENSP00000417132.1:p.Arg540=
ENST00000296288.9:c.1564C=
ENSP00000296288.5:p.Arg522=
ENST00000460680.5:c.1618C=
ENSP00000417132.1:p.Arg540=
ENST00000466093.1:n.25C=
ENST00000469613.5:c.119+274C=
ENST00000478368.1:c.121C=
ENSP00000420647.1:p.Arg41=
NM_004656.3:c.1618C=
NP_004647.1:p.Arg540=
XM_011534149.1:c.1618C=
XP_011532451.1:p.Arg540=
XM_011534150.1:c.1618C=
XP_011532452.1:p.Arg540=
XM_011534151.1:c.1564C=
XP_011532453.1:p.Arg522=
XM_011534152.1:c.1618C=
XP_011532454.1:p.Arg540=
XM_011534149.3:c.1618C=
XP_011532451.1:p.Arg540=
XM_011534150.3:c.1618C=
XP_011532452.1:p.Arg540=
XM_011534151.3:c.1564C=
XP_011532453.1:p.Arg522=
XM_011534152.2:c.1618C=
XP_011532454.1:p.Arg540=
XM_017007303.2:c.1564C=
XP_016862792.1:p.Arg522=
NM_004656.4:c.1618C=
MANE Select
NP_004647.1:p.Arg540=