Linked Data
dbSNP Id:
rs763389560
ExAC:
2:169801269 G / A
gnomAD v2:
2-169801269-G-A
gnomAD v4:
2-168944759-G-A
COSMIC:
COSM1494659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168944759G>A , CM000664.2:g.168944759G>A | GRCh38 |
| NC_000002.11:g.169801269G>A , CM000664.1:g.169801269G>A | GRCh37 |
| NC_000002.10:g.169509515G>A | NCBI36 |
| NG_007374.1:g.91565C>T | |
| NG_007374.2:g.91638C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649448.1:c.773C>T | ENSP00000497165.1:p.Ala258Val | |
| ENST00000650372.1:c.2456C>T MANE Select | ENSP00000497931.1:p.Ala819Val | |
| ENST00000263817.6:c.2456C>T | ENSP00000263817.6:p.Ala819Val | |
| ENST00000439188.1:c.1145C>T | ENSP00000416058.1:n.1145C>T | |
| NM_003742.2:c.2456C>T | NP_003733.2:p.Ala819Val | |
| XM_006712817.2:c.2498C>T | XP_006712880.1:p.Ala833Val | |
| XM_011512077.1:c.2558C>T | XP_011510379.1:p.Ala853Val | |
| XM_011512078.1:c.2558C>T | XP_011510380.1:p.Ala853Val | |
| XM_011512079.1:c.2558C>T | XP_011510381.1:p.Ala853Val | |
| XM_011512080.1:c.2558C>T | XP_011510382.1:p.Ala853Val | |
| XM_011512081.1:c.782C>T | XP_011510383.1:p.Ala261Val | |
| NM_003742.4:c.2456C>T MANE Select | NP_003733.2:p.Ala819Val | |
| XM_006712817.3:c.2498C>T | XP_006712880.1:p.Ala833Val | |
| XM_011512077.2:c.2558C>T | XP_011510379.1:p.Ala853Val | |
| XM_011512078.2:c.2558C>T | XP_011510380.1:p.Ala853Val | |
| XM_011512080.2:c.2558C>T | XP_011510382.1:p.Ala853Val | |
| XM_011512081.2:c.782C>T | XP_011510383.1:p.Ala261Val | |
| XM_017005165.1:c.2558C>T | XP_016860654.1:p.Ala853Val | |
| XM_017005166.1:c.1787C>T | XP_016860655.1:p.Ala596Val | |
| XM_017005167.1:c.1241C>T | XP_016860656.1:p.Ala414Val |