Linked Data
ClinVar Variation Id:
380968
dbSNP Id:
rs3115545
ExAC:
11:67800494 T / A
gnomAD v2:
11-67800494-T-A
gnomAD v3:
11-68033027-T-A
gnomAD v4:
11-68033027-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033027T>A , CM000673.2:g.68033027T>A | GRCh38 |
| NC_000011.9:g.67800494T>A , CM000673.1:g.67800494T>A | GRCh37 |
| NC_000011.8:g.67557070T>A | NCBI36 |
| NG_017040.1:g.7411T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.199+15T>A MANE Select | ENSP00000315774.5:n.199+15T>A | |
| ENST00000313468.9:c.199+15T>A | ENSP00000315774.5:n.199+15T>A | |
| ENST00000432321.6:n.316+15T>A | ||
| ENST00000453471.6:c.199+15T>A | ENSP00000403972.2:n.199+15T>A | |
| ENST00000525419.5:c.145+15T>A | ENSP00000433521.1:n.145+15T>A | |
| ENST00000525628.1:c.199+15T>A | ENSP00000432968.1:n.199+15T>A | |
| ENST00000526339.5:c.199+15T>A | ENSP00000436287.1:n.199+15T>A | |
| ENST00000526446.5:c.*254+15T>A | ENSP00000433645.1:n.*254+15T>A | |
| ENST00000528492.1:c.-67+2294T>A | ENSP00000432848.1:n.-67+2294T>A | |
| ENST00000529645.1:c.377+15T>A | ENSP00000431293.1:n.377+15T>A | |
| ENST00000531228.1:c.*41+15T>A | ENSP00000433054.1:n.*41+15T>A | |
| ENST00000532399.1:n.821T>A | ||
| NM_002496.3:c.199+15T>A | NP_002487.1:n.199+15T>A | |
| XM_005274013.1:c.199+15T>A | XP_005274070.1:n.199+15T>A | |
| XM_005274014.1:c.199+15T>A | XP_005274071.1:n.199+15T>A | |
| XM_005274015.1:c.79+15T>A | XP_005274072.1:n.79+15T>A | |
| XM_011545053.1:c.199+15T>A | XP_011543355.1:n.199+15T>A | |
| NM_002496.4:c.199+15T>A MANE Select | NP_002487.1:n.199+15T>A |