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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.225852731T>G , CM000663.2:g.225852731T>G
GRCh38
NC_000001.10:g.226040432T>G , CM000663.1:g.226040432T>G
GRCh37
NC_000001.9:g.224107055T>G
NCBI36
Transcript Alleles
HGVS
Amino-acid Change
ENST00000366835.8:c.1836A>C
MANE Select
ENSP00000355800.3:p.Ala612=
ENST00000366835.7:c.1836A>C
ENSP00000355800.3:p.Ala612=
NM_014698.2:c.1836A>C
NP_055513.2:p.Ala612=
XM_006711841.2:c.1305A>C
XP_006711904.1:p.Ala435=
XM_011544328.1:c.1836A>C
XP_011542630.1:p.Ala612=
XM_011544329.1:c.1836A>C
XP_011542631.1:p.Ala612=
XM_011544330.1:c.1836A>C
XP_011542632.1:p.Ala612=
XM_011544331.1:c.1749A>C
XP_011542633.1:p.Ala583=
XM_011544332.1:c.1395A>C
XP_011542634.1:p.Ala465=
XR_949163.1:n.2141A>C
XM_006711841.4:c.1305A>C
XP_006711904.1:p.Ala435=
XM_011544328.3:c.1836A>C
XP_011542630.1:p.Ala612=
XM_011544329.3:c.1836A>C
XP_011542631.1:p.Ala612=
XM_011544330.3:c.1836A>C
XP_011542632.1:p.Ala612=
XM_011544331.3:c.1749A>C
XP_011542633.1:p.Ala583=
XM_011544332.3:c.1395A>C
XP_011542634.1:p.Ala465=
XR_001737552.2:n.1923A>C
XR_949163.3:n.2120A>C
NM_014698.3:c.1836A>C
MANE Select
NP_055513.2:p.Ala612=