Linked Data
ClinVar Variation Id:
4807
dbSNP Id:
rs8042919
ExAC:
15:50878630 G / A
gnomAD v2:
15-50878630-G-A
gnomAD v3:
15-50586433-G-A
gnomAD v4:
15-50586433-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50586433G>A , CM000677.2:g.50586433G>A | GRCh38 |
| NC_000015.9:g.50878630G>A , CM000677.1:g.50878630G>A | GRCh37 |
| NC_000015.8:g.48665922G>A | NCBI36 |
| NG_021363.1:g.105383C>T | |
| NG_021363.2:g.105383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645282.1:n.249C>T | ||
| ENST00000646667.1:c.4445C>T MANE Select | ENSP00000495860.1:p.Thr1482Ile | |
| ENST00000313478.11:c.4445C>T | ENSP00000320239.7:p.Thr1482Ile | |
| ENST00000560849.2:n.150C>T | ||
| ENST00000560955.5:c.4445C>T | ENSP00000453277.1:p.Thr1482Ile | |
| NM_001301212.1:c.4445C>T | NP_001288141.1:p.Thr1482Ile | |
| NM_017672.5:c.4445C>T | NP_060142.3:p.Thr1482Ile | |
| XM_005254486.2:c.4505C>T | XP_005254543.1:p.Thr1502Ile | |
| XM_005254487.2:c.4505C>T | XP_005254544.1:p.Thr1502Ile | |
| XR_931853.1:n.4787C>T | ||
| NR_149152.1:n.4677C>T | ||
| NR_149153.1:n.4600C>T | ||
| NR_149154.1:n.4527C>T | ||
| XM_005254486.4:c.4505C>T | XP_005254543.1:p.Thr1502Ile | |
| XM_017022350.1:c.4532C>T | XP_016877839.1:p.Thr1511Ile | |
| XM_017022351.1:c.4532C>T | XP_016877840.1:p.Thr1511Ile | |
| XM_017022352.1:c.4472C>T | XP_016877841.1:p.Thr1491Ile | |
| XM_017022353.2:c.4472C>T | XP_016877842.1:p.Thr1491Ile | |
| XM_017022354.1:c.4328C>T | XP_016877843.1:p.Thr1443Ile | |
| XM_017022355.1:c.4328C>T | XP_016877844.1:p.Thr1443Ile | |
| XR_001751325.1:n.4547C>T | ||
| XR_001751326.2:n.4547C>T | ||
| XR_001751327.1:n.4547C>T | ||
| XR_001751328.2:n.4547C>T | ||
| XR_002957654.1:n.4437C>T | ||
| NM_017672.6:c.4445C>T MANE Select | NP_060142.3:p.Thr1482Ile | |
| NM_001301212.2:c.4445C>T | NP_001288141.1:p.Thr1482Ile | |
| NR_149152.2:n.4659C>T | ||
| NR_149153.2:n.4582C>T | ||
| NR_149154.2:n.4509C>T |