Linked Data
ClinVar Variation Id:
2874460
ClinVar RCV Id:
RCV003714500
dbSNP Id:
rs1157925032
gnomAD v3:
12-53307717-C-T
gnomAD v4:
12-53307717-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53307717C>T , CM000674.2:g.53307717C>T | GRCh38 |
| NC_000012.11:g.53701501C>T , CM000674.1:g.53701501C>T | GRCh37 |
| NC_000012.10:g.51987768C>T | NCBI36 |
| NG_016775.1:g.18912G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1417-4G>A MANE Select | ENSP00000209873.4:n.1417-4G>A | |
| ENST00000546562.6:n.2481-4G>A | ||
| ENST00000547238.6:n.2053-4G>A | ||
| ENST00000547520.6:n.1533-4G>A | ||
| ENST00000547757.2:c.*331G>A | ENSP00000448020.2:n.*331G>A | |
| ENST00000548880.2:n.1867-4G>A | ||
| ENST00000548931.6:c.852-4G>A | ENSP00000457518.1:n.852-4G>A | |
| ENST00000549450.6:n.1351-4G>A | ||
| ENST00000552161.6:n.2495-4G>A | ||
| ENST00000672797.1:n.1906-4G>A | ||
| ENST00000209873.8:c.1417-4G>A | ENSP00000209873.4:n.1417-4G>A | |
| ENST00000394384.7:c.1318-4G>A | ENSP00000377908.3:n.1318-4G>A | |
| ENST00000548931.5:c.852-4G>A | ENSP00000457518.1:n.852-4G>A | |
| ENST00000550286.5:c.1045-4G>A | ENSP00000446885.1:n.1045-4G>A | |
| ENST00000552876.5:n.1760-4G>A | ||
| NM_001173466.1:c.1318-4G>A | NP_001166937.1:n.1318-4G>A | |
| NM_015665.5:c.1417-4G>A | NP_056480.1:n.1417-4G>A | |
| XM_006719617.2:c.1432-4G>A | XP_006719680.1:n.1432-4G>A | |
| XM_011538777.1:c.1474-4G>A | XP_011537079.1:n.1474-4G>A | |
| XM_011538778.1:c.1459-4G>A | XP_011537080.1:n.1459-4G>A | |
| XM_011538779.1:c.1375-4G>A | XP_011537081.1:n.1375-4G>A | |
| XM_011538780.1:c.1360-4G>A | XP_011537082.1:n.1360-4G>A | |
| XM_011538781.1:c.808-4G>A | XP_011537083.1:n.808-4G>A | |
| XM_011538778.2:c.1459-4G>A | XP_011537080.1:n.1459-4G>A | |
| XM_011538780.2:c.1360-4G>A | XP_011537082.1:n.1360-4G>A | |
| XR_001748875.2:n.1474-4G>A | ||
| NM_015665.6:c.1417-4G>A MANE Select | NP_056480.1:n.1417-4G>A | |
| NM_001173466.2:c.1318-4G>A | NP_001166937.1:n.1318-4G>A |