Linked Data
dbSNP Id:
rs749849517
ExAC:
11:67800736 A / G
gnomAD v2:
11-67800736-A-G
gnomAD v3:
11-68033269-A-G
gnomAD v4:
11-68033269-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033269A>G , CM000673.2:g.68033269A>G | GRCh38 |
| NC_000011.9:g.67800736A>G , CM000673.1:g.67800736A>G | GRCh37 |
| NC_000011.8:g.67557312A>G | NCBI36 |
| NG_017040.1:g.7653A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.358A>G MANE Select | ENSP00000315774.5:p.Ile120Val | |
| ENST00000313468.9:c.358A>G | ENSP00000315774.5:p.Ile120Val | |
| ENST00000432321.6:n.475A>G | ||
| ENST00000453471.6:c.358A>G | ENSP00000403972.2:p.Ile120Val | |
| ENST00000524810.5:c.129A>G | ||
| ENST00000525419.5:c.304A>G | ENSP00000433521.1:p.Ile102Val | |
| ENST00000526339.5:c.358A>G | ENSP00000436287.1:p.Ile120Val | |
| ENST00000526446.5:c.*413A>G | ENSP00000433645.1:n.*413A>G | |
| ENST00000528492.1:c.-67+2536A>G | ENSP00000432848.1:n.-67+2536A>G | |
| ENST00000529645.1:c.536A>G | ENSP00000431293.1:n.536A>G | |
| ENST00000532399.1:n.1063A>G | ||
| NM_002496.3:c.358A>G | NP_002487.1:p.Ile120Val | |
| XM_005274013.1:c.358A>G | XP_005274070.1:p.Ile120Val | |
| XM_005274014.1:c.358A>G | XP_005274071.1:p.Ile120Val | |
| XM_005274015.1:c.238A>G | XP_005274072.1:p.Ile80Val | |
| XM_011545053.1:c.358A>G | XP_011543355.1:p.Ile120Val | |
| NM_002496.4:c.358A>G MANE Select | NP_002487.1:p.Ile120Val |