Linked Data
ClinVar Variation Id:
293038
dbSNP Id:
rs34446973
ExAC:
1:158641199 T / C
gnomAD v2:
1-158641199-T-C
gnomAD v3:
1-158671409-T-C
gnomAD v4:
1-158671409-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158671409T>C , CM000663.2:g.158671409T>C | GRCh38 |
| NC_000001.10:g.158641199T>C , CM000663.1:g.158641199T>C | GRCh37 |
| NC_000001.9:g.156907823T>C | NCBI36 |
| NG_011474.1:g.20308A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.1533A>G MANE Select | ENSP00000495214.1:p.Ala511= | |
| ENST00000368147.8:c.1533A>G | ENSP00000357129.4:p.Ala511= | |
| ENST00000614909.4:c.1533A>G | ENSP00000482595.1:p.Ala511= | |
| NM_003126.2:c.1533A>G | NP_003117.2:p.Ala511= | |
| XM_011509916.1:c.1533A>G | XP_011508218.1:p.Ala511= | |
| XM_011509917.1:c.1533A>G | XP_011508219.1:p.Ala511= | |
| XM_011509918.1:c.1533A>G | XP_011508220.1:p.Ala511= | |
| XM_011509919.1:c.1533A>G | XP_011508221.1:p.Ala511= | |
| XR_921911.1:n.1646A>G | ||
| XR_921912.1:n.1651A>G | ||
| NM_003126.3:c.1533A>G | NP_003117.2:p.Ala511= | |
| XM_011509916.2:c.1533A>G | XP_011508218.1:p.Ala511= | |
| XM_011509917.3:c.1533A>G | XP_011508219.1:p.Ala511= | |
| XM_011509918.3:c.1533A>G | XP_011508220.1:p.Ala511= | |
| XM_011509919.3:c.1533A>G | XP_011508221.1:p.Ala511= | |
| XR_921911.3:n.1659A>G | ||
| XR_921912.2:n.1661A>G | ||
| NM_003126.4:c.1533A>G MANE Select | NP_003117.2:p.Ala511= |