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Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.128916410C>A , CM000673.2:g.128916410C>A
GRCh38
NC_000011.9:g.128786305C>A , CM000673.1:g.128786305C>A
GRCh37
NC_000011.8:g.128291515C>A
NCBI36
NG_023406.2:g.29993C>A , LRG_333:g.29993C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000529694.6:c.939C>A
MANE Select
ENSP00000433295.1:p.Gly313=
ENST00000338350.4:c.939C>A
ENSP00000339960.4:p.Gly313=
ENST00000529694.5:c.939C>A
ENSP00000433295.1:p.Gly313=
ENST00000533599.1:c.939C>A
ENSP00000434266.1:p.Gly313=
NM_000890.3:c.939C>A , LRG_333t1:c.939C>A
NP_000881.3:p.Gly313=
XM_011542809.1:c.939C>A
XP_011541111.1:p.Gly313=
XM_011542810.1:c.939C>A
XP_011541112.1:p.Gly313=
NM_000890.4:c.939C>A
NP_000881.3:p.Gly313=
NM_001354169.1:c.939C>A
NP_001341098.1:p.Gly313=
XM_011542809.2:c.939C>A
XP_011541111.1:p.Gly313=
XM_011542810.3:c.939C>A
XP_011541112.1:p.Gly313=
NM_000890.5:c.939C>A
MANE Select
NP_000881.3:p.Gly313=
NM_001354169.2:c.939C>A
NP_001341098.1:p.Gly313=