Linked Data
ClinVar Variation Id:
293048
dbSNP Id:
rs183647059
ExAC:
1:158648210 T / C
gnomAD v2:
1-158648210-T-C
gnomAD v3:
1-158678420-T-C
gnomAD v4:
1-158678420-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158678420T>C , CM000663.2:g.158678420T>C | GRCh38 |
| NC_000001.10:g.158648210T>C , CM000663.1:g.158648210T>C | GRCh37 |
| NC_000001.9:g.156914834T>C | NCBI36 |
| NG_011474.1:g.13297A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.793A>G MANE Select | ENSP00000495214.1:p.Asn265Asp | |
| ENST00000368147.8:c.793A>G | ENSP00000357129.4:p.Asn265Asp | |
| ENST00000467387.1:c.247A>G | ENSP00000476485.1:p.Asn83Asp | |
| ENST00000614909.4:c.793A>G | ENSP00000482595.1:p.Asn265Asp | |
| NM_003126.2:c.793A>G | NP_003117.2:p.Asn265Asp | |
| XM_011509916.1:c.793A>G | XP_011508218.1:p.Asn265Asp | |
| XM_011509917.1:c.793A>G | XP_011508219.1:p.Asn265Asp | |
| XM_011509918.1:c.793A>G | XP_011508220.1:p.Asn265Asp | |
| XM_011509919.1:c.793A>G | XP_011508221.1:p.Asn265Asp | |
| XR_921911.1:n.906A>G | ||
| XR_921912.1:n.911A>G | ||
| NM_003126.3:c.793A>G | NP_003117.2:p.Asn265Asp | |
| XM_011509916.2:c.793A>G | XP_011508218.1:p.Asn265Asp | |
| XM_011509917.3:c.793A>G | XP_011508219.1:p.Asn265Asp | |
| XM_011509918.3:c.793A>G | XP_011508220.1:p.Asn265Asp | |
| XM_011509919.3:c.793A>G | XP_011508221.1:p.Asn265Asp | |
| XR_921911.3:n.919A>G | ||
| XR_921912.2:n.921A>G | ||
| NM_003126.4:c.793A>G MANE Select | NP_003117.2:p.Asn265Asp |