Linked Data
dbSNP Id:
rs764907762
ExAC:
3:43759347 A / G
gnomAD v2:
3-43759347-A-G
gnomAD v3:
3-43717855-A-G
gnomAD v4:
3-43717855-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.43717855A>G , CM000665.2:g.43717855A>G | GRCh38 |
| NC_000003.11:g.43759347A>G , CM000665.1:g.43759347A>G | GRCh37 |
| NC_000003.10:g.43734351A>G | NCBI36 |
| NG_007090.3:g.31973A>G | |
| NG_007090.5:g.31986A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413300.2:c.357A>G | ||
| ENST00000454293.2:c.835A>G | ENSP00000412014.2:p.Ile279Val | |
| ENST00000458276.7:c.774-588A>G | ENSP00000390849.3:n.774-588A>G | |
| ENST00000463153.2:c.185A>G | ||
| ENST00000642351.1:c.835A>G | ENSP00000494478.1:p.Ile279Val | |
| ENST00000643140.1:c.*320A>G | ENSP00000495588.1:n.*320A>G | |
| ENST00000643477.1:c.*419A>G | ENSP00000496220.1:n.*419A>G | |
| ENST00000643500.1:c.*159A>G | ENSP00000494735.1:n.*159A>G | |
| ENST00000643520.1:n.1124A>G | ||
| ENST00000644371.2:c.958A>G MANE Select | ENSP00000495778.1:p.Ile320Val | |
| ENST00000646378.1:c.*1008A>G | ENSP00000495826.1:n.*1008A>G | |
| ENST00000646799.1:c.*248-588A>G | ENSP00000494829.1:n.*248-588A>G | |
| ENST00000649763.1:c.958A>G | ENSP00000497701.1:p.Ile320Val | |
| ENST00000413300.1:c.359A>G | ENSP00000392159.1:p.Asn120Ser | |
| ENST00000458276.6:c.958A>G | ENSP00000390849.2:p.Ile320Val | |
| ENST00000463153.1:n.188A>G | ||
| NM_016006.4:c.958A>G | NP_057090.2:p.Ile320Val | |
| XM_011533779.1:c.835A>G | XP_011532081.1:p.Ile279Val | |
| XM_011533780.1:c.774-588A>G | XP_011532082.1:n.774-588A>G | |
| XR_940447.1:n.903A>G | ||
| NM_001355186.1:c.958A>G | NP_001342115.1:p.Ile320Val | |
| NM_001365649.1:c.835A>G | NP_001352578.1:p.Ile279Val | |
| NM_001365650.1:c.774-588A>G | NP_001352579.1:n.774-588A>G | |
| NM_016006.5:c.958A>G | NP_057090.2:p.Ile320Val | |
| NR_158560.1:n.969A>G | ||
| NM_001355186.2:c.958A>G | NP_001342115.1:p.Ile320Val | |
| NM_016006.6:c.958A>G MANE Select | NP_057090.2:p.Ile320Val |