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Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.162778585G>A , CM000663.2:g.162778585G>A
GRCh38
NC_000001.10:g.162748375G>A , CM000663.1:g.162748375G>A
GRCh37
NC_000001.9:g.161014999G>A
NCBI36
NG_016290.1:g.151148G>A
NG_016290.2:g.152373G>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000367921.8:c.2289G>A
MANE Select
ENSP00000356898.3:p.Lys763=
ENST00000446985.6:c.2289G>A
ENSP00000400309.2:p.Lys763=
ENST00000367921.7:c.2289G>A
ENSP00000356898.3:p.Lys763=
ENST00000367922.7:c.2289G>A
ENSP00000356899.2:p.Lys763=
NM_001014796.1:c.2289G>A
NP_001014796.1:p.Lys763=
NM_006182.2:c.2289G>A
NP_006173.2:p.Lys763=
XM_006711344.2:c.2289G>A
XP_006711407.1:p.Lys763=
XM_011509586.1:c.2289G>A
XP_011507888.1:p.Lys763=
XM_011509587.1:c.2289G>A
XP_011507889.1:p.Lys763=
NM_001014796.2:c.2289G>A
NP_001014796.1:p.Lys763=
NM_001354982.1:c.2289G>A
NP_001341911.1:p.Lys763=
NM_001354983.1:c.2289G>A
NP_001341912.1:p.Lys763=
NM_006182.3:c.2289G>A
NP_006173.2:p.Lys763=
XM_011509587.2:c.2289G>A
XP_011507889.1:p.Lys763=
NM_006182.4:c.2289G>A
MANE Select
NP_006173.2:p.Lys763=
NM_001014796.3:c.2289G>A
NP_001014796.1:p.Lys763=
NM_001354982.2:c.2289G>A
NP_001341911.1:p.Lys763=
NM_001354983.2:c.2289G>A
NP_001341912.1:p.Lys763=