Linked Data
ClinVar Variation Id:
309740
dbSNP Id:
rs886049651
gnomAD v2:
12-53714480-T-C
gnomAD v4:
12-53320696-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53320696T>C , CM000674.2:g.53320696T>C | GRCh38 |
| NC_000012.11:g.53714480T>C , CM000674.1:g.53714480T>C | GRCh37 |
| NC_000012.10:g.52000747T>C | NCBI36 |
| NG_016775.1:g.5933A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.124-4A>G MANE Select | ENSP00000209873.4:n.124-4A>G | |
| ENST00000546393.7:n.222-4A>G | ||
| ENST00000546562.6:n.141-4A>G | ||
| ENST00000547238.6:n.562A>G | ||
| ENST00000547520.6:n.58-4A>G | ||
| ENST00000547757.2:c.-733A>G | ENSP00000448020.2:n.-733A>G | |
| ENST00000548880.2:n.274-4A>G | ||
| ENST00000549450.6:n.58-4A>G | ||
| ENST00000552161.6:n.582A>G | ||
| ENST00000672797.1:n.573A>G | ||
| ENST00000209873.8:c.124-4A>G | ENSP00000209873.4:n.124-4A>G | |
| ENST00000394384.7:c.124-4A>G | ENSP00000377908.3:n.124-4A>G | |
| ENST00000546562.5:n.141-4A>G | ||
| ENST00000547238.5:n.513A>G | ||
| ENST00000547757.1:c.124-4A>G | ENSP00000448020.1:n.124-4A>G | |
| ENST00000547761.6:n.108-4A>G | ||
| ENST00000548258.5:n.152-4A>G | ||
| ENST00000548880.1:n.219-4A>G | ||
| ENST00000549450.5:n.58-4A>G | ||
| ENST00000549821.5:n.122-4A>G | ||
| ENST00000549983.5:n.147-4A>G | ||
| ENST00000550286.5:c.-157-4A>G | ENSP00000446885.1:n.-157-4A>G | |
| ENST00000551724.5:n.174-4A>G | ||
| ENST00000552161.5:n.219-4A>G | ||
| ENST00000552876.5:n.562A>G | ||
| NM_001173466.1:c.124-4A>G | NP_001166937.1:n.124-4A>G | |
| NM_015665.5:c.124-4A>G | NP_056480.1:n.124-4A>G | |
| XM_006719617.2:c.139-4A>G | XP_006719680.1:n.139-4A>G | |
| XM_006719619.2:c.139-4A>G | XP_006719682.1:n.139-4A>G | |
| XM_011538777.1:c.139-4A>G | XP_011537079.1:n.139-4A>G | |
| XM_011538778.1:c.124-4A>G | XP_011537080.1:n.124-4A>G | |
| XM_011538779.1:c.139-4A>G | XP_011537081.1:n.139-4A>G | |
| XM_011538780.1:c.124-4A>G | XP_011537082.1:n.124-4A>G | |
| XM_011538778.2:c.124-4A>G | XP_011537080.1:n.124-4A>G | |
| XM_011538780.2:c.124-4A>G | XP_011537082.1:n.124-4A>G | |
| XR_001748875.2:n.244-4A>G | ||
| NM_015665.6:c.124-4A>G MANE Select | NP_056480.1:n.124-4A>G | |
| NM_001173466.2:c.124-4A>G | NP_001166937.1:n.124-4A>G |