Linked Data
ClinVar Variation Id:
1169124
ClinVar RCV Id:
RCV001519965
dbSNP Id:
rs769888700
ExAC:
X:138644098 A / G
gnomAD v2:
X-138644098-A-G
gnomAD v3:
X-139561939-A-G
gnomAD v4:
X-139561939-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139561939A>G , CM000685.2:g.139561939A>G | GRCh38 |
| NC_000023.10:g.138644098A>G , CM000685.1:g.138644098A>G | GRCh37 |
| NC_000023.9:g.138471764A>G | NCBI36 |
| NG_007994.1:g.36204A>G , LRG_556:g.36204A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.1254A>G MANE Select | ENSP00000218099.2:p.Glu418= | |
| ENST00000643157.1:n.1723+198A>G | ||
| ENST00000218099.6:c.1254A>G | ENSP00000218099.2:p.Glu418= | |
| ENST00000394090.2:c.1140A>G | ENSP00000377650.2:p.Glu380= | |
| NM_000133.3:c.1254A>G , LRG_556t1:c.1254A>G | NP_000124.1:p.Glu418= | |
| NM_001313913.1:c.1140A>G | NP_001300842.1:p.Glu380= | |
| XM_005262397.3:c.1125A>G | XP_005262454.1:p.Glu375= | |
| XM_005262397.4:c.1125A>G | XP_005262454.1:p.Glu375= | |
| NM_000133.4:c.1254A>G MANE Select | NP_000124.1:p.Glu418= | |
| NM_001313913.2:c.1140A>G | NP_001300842.1:p.Glu380= |