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Genomic Alleles
HGVS
Genome Assembly
NC_000022.11:g.37185418G= , CM000684.2:g.37185418G=
GRCh38
NC_000022.10:g.37581458G= , CM000684.1:g.37581458G=
GRCh37
NC_000022.9:g.35911404G=
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000337843.7:c.89C=
MANE Select
ENSP00000338812.2:p.Ala30=
ENST00000337843.6:c.89C=
ENSP00000338812.2:p.Ala30=
ENST00000397110.6:c.89C=
ENSP00000380299.2:p.Ala30=
ENST00000434784.1:c.89C=
ENSP00000399243.1:p.Ala30=
ENST00000470655.5:n.3579C=
ENST00000493023.1:n.531C=
NM_031910.3:c.89C=
NP_114116.3:p.Ala30=
NM_182486.1:c.89C=
NP_872292.1:p.Ala30=
XM_006724125.2:c.32C=
XP_006724188.1:p.Ala11=
XM_011529857.1:c.32C=
XP_011528159.1:p.Ala11=
NM_001365878.1:c.32C=
NP_001352807.1:p.Ala11=
XM_011529857.2:c.32C=
XP_011528159.1:p.Ala11=
XM_017028569.1:c.89C=
XP_016884058.1:p.Ala30=
XM_024452150.1:c.89C=
XP_024307918.1:p.Ala30=
XM_024452151.1:c.89C=
XP_024307919.1:p.Ala30=
XM_024452152.1:c.89C=
XP_024307920.1:p.Ala30=
XM_024452153.1:c.89C=
XP_024307921.1:p.Ala30=
XM_024452154.1:c.89C=
XP_024307922.1:p.Ala30=
XM_024452155.1:c.32C=
XP_024307923.1:p.Ala11=
NM_031910.4:c.89C=
MANE Select
NP_114116.3:p.Ala30=
NM_182486.2:c.89C=
NP_872292.1:p.Ala30=