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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.47438004G= , CM000673.2:g.47438004G=
GRCh38
NC_000011.9:g.47459555G= , CM000673.1:g.47459555G=
GRCh37
NC_000011.8:g.47416131G=
NCBI36
NG_008312.1:g.16176C=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000298854.7:c.1210C=
MANE Select
ENSP00000298854.2:p.Arg404=
ENST00000298854.6:c.1210C=
ENSP00000298854.2:p.Arg404=
ENST00000352508.7:c.1033C=
ENSP00000298853.3:p.Arg345=
ENST00000524487.5:c.1051C=
ENSP00000435551.2:p.Arg351=
ENST00000528356.1:n.165C=
NM_005055.4:c.1210C=
NP_005046.2:p.Arg404=
NM_032645.4:c.1033C=
NP_116034.2:p.Arg345=
XM_005253042.2:c.1156C=
XP_005253099.1:p.Arg386=
XM_005253043.2:c.1087C=
XP_005253100.1:p.Arg363=
XM_011520252.1:c.1295C=
XP_011518554.1:p.Pro432=
XM_011520253.1:c.1234C=
XP_011518555.1:p.Arg412=
XM_005253042.3:c.1156C=
XP_005253099.1:p.Arg386=
XM_005253043.3:c.1087C=
XP_005253100.1:p.Arg363=
NM_005055.5:c.1210C=
MANE Select
NP_005046.2:p.Arg404=
NM_032645.5:c.1033C=
NP_116034.2:p.Arg345=