Linked Data
ClinVar Variation Id:
2984160
ClinVar RCV Id:
RCV003843319
dbSNP Id:
rs956959048
gnomAD v2:
12-53702927-C-G
gnomAD v3:
12-53309143-C-G
gnomAD v4:
12-53309143-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53309143C>G , CM000674.2:g.53309143C>G | GRCh38 |
| NC_000012.11:g.53702927C>G , CM000674.1:g.53702927C>G | GRCh37 |
| NC_000012.10:g.51989194C>G | NCBI36 |
| NG_016775.1:g.17486G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.935+14G>C MANE Select | ENSP00000209873.4:n.935+14G>C | |
| ENST00000546393.7:n.1780+14G>C | ||
| ENST00000546562.6:n.1999+14G>C | ||
| ENST00000547238.6:n.1571+14G>C | ||
| ENST00000547520.6:n.929+14G>C | ||
| ENST00000547757.2:c.-17+14G>C | ENSP00000448020.2:n.-17+14G>C | |
| ENST00000548880.2:n.1385+14G>C | ||
| ENST00000548931.6:c.455+14G>C | ENSP00000457518.1:n.455+14G>C | |
| ENST00000549450.6:n.869+14G>C | ||
| ENST00000552161.6:n.1891+14G>C | ||
| ENST00000672797.1:n.1388+14G>C | ||
| ENST00000672900.1:n.1733+14G>C | ||
| ENST00000209873.8:c.935+14G>C | ENSP00000209873.4:n.935+14G>C | |
| ENST00000394384.7:c.836+14G>C | ENSP00000377908.3:n.836+14G>C | |
| ENST00000546572.1:n.401G>C | ||
| ENST00000547520.5:n.639+14G>C | ||
| ENST00000548931.5:c.455+14G>C | ENSP00000457518.1:n.455+14G>C | |
| ENST00000550033.5:n.190+14G>C | ||
| ENST00000550286.5:c.563+14G>C | ENSP00000446885.1:n.563+14G>C | |
| ENST00000552876.5:n.1278+14G>C | ||
| NM_001173466.1:c.836+14G>C | NP_001166937.1:n.836+14G>C | |
| NM_015665.5:c.935+14G>C | NP_056480.1:n.935+14G>C | |
| XM_006719617.2:c.950+14G>C | XP_006719680.1:n.950+14G>C | |
| XM_006719619.2:c.950+14G>C | XP_006719682.1:n.950+14G>C | |
| XM_011538777.1:c.950+14G>C | XP_011537079.1:n.950+14G>C | |
| XM_011538778.1:c.935+14G>C | XP_011537080.1:n.935+14G>C | |
| XM_011538779.1:c.851+14G>C | XP_011537081.1:n.851+14G>C | |
| XM_011538780.1:c.836+14G>C | XP_011537082.1:n.836+14G>C | |
| XM_011538781.1:c.284+14G>C | XP_011537083.1:n.284+14G>C | |
| XM_011538778.2:c.935+14G>C | XP_011537080.1:n.935+14G>C | |
| XM_011538780.2:c.836+14G>C | XP_011537082.1:n.836+14G>C | |
| XR_001748875.2:n.956+14G>C | ||
| NM_015665.6:c.935+14G>C MANE Select | NP_056480.1:n.935+14G>C | |
| NM_001173466.2:c.836+14G>C | NP_001166937.1:n.836+14G>C |