Linked Data
ClinVar Variation Id:
309729
dbSNP Id:
rs200312077
ExAC:
12:53702732 G / A
gnomAD v2:
12-53702732-G-A
gnomAD v3:
12-53308948-G-A
gnomAD v4:
12-53308948-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308948G>A , CM000674.2:g.53308948G>A | GRCh38 |
| NC_000012.11:g.53702732G>A , CM000674.1:g.53702732G>A | GRCh37 |
| NC_000012.10:g.51988999G>A | NCBI36 |
| NG_016775.1:g.17681C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.996+12C>T MANE Select | ENSP00000209873.4:n.996+12C>T | |
| ENST00000546393.7:n.1841+12C>T | ||
| ENST00000546562.6:n.2060+12C>T | ||
| ENST00000547238.6:n.1632+12C>T | ||
| ENST00000547520.6:n.990+12C>T | ||
| ENST00000547757.2:c.45+12C>T | ENSP00000448020.2:n.45+12C>T | |
| ENST00000548880.2:n.1446+12C>T | ||
| ENST00000548931.6:c.516+12C>T | ENSP00000457518.1:n.516+12C>T | |
| ENST00000549450.6:n.930+12C>T | ||
| ENST00000552161.6:n.1952+12C>T | ||
| ENST00000672797.1:n.1449+12C>T | ||
| ENST00000672900.1:n.1806C>T | ||
| ENST00000209873.8:c.996+12C>T | ENSP00000209873.4:n.996+12C>T | |
| ENST00000394384.7:c.897+12C>T | ENSP00000377908.3:n.897+12C>T | |
| ENST00000547520.5:n.700+12C>T | ||
| ENST00000548931.5:c.516+12C>T | ENSP00000457518.1:n.516+12C>T | |
| ENST00000550033.5:n.251+12C>T | ||
| ENST00000550286.5:c.624+12C>T | ENSP00000446885.1:n.624+12C>T | |
| ENST00000552876.5:n.1339+12C>T | ||
| NM_001173466.1:c.897+12C>T | NP_001166937.1:n.897+12C>T | |
| NM_015665.5:c.996+12C>T | NP_056480.1:n.996+12C>T | |
| XM_006719617.2:c.1011+12C>T | XP_006719680.1:n.1011+12C>T | |
| XM_006719619.2:c.1011+12C>T | XP_006719682.1:n.1011+12C>T | |
| XM_011538777.1:c.1011+12C>T | XP_011537079.1:n.1011+12C>T | |
| XM_011538778.1:c.996+12C>T | XP_011537080.1:n.996+12C>T | |
| XM_011538779.1:c.912+12C>T | XP_011537081.1:n.912+12C>T | |
| XM_011538780.1:c.897+12C>T | XP_011537082.1:n.897+12C>T | |
| XM_011538781.1:c.345+12C>T | XP_011537083.1:n.345+12C>T | |
| XM_011538778.2:c.996+12C>T | XP_011537080.1:n.996+12C>T | |
| XM_011538780.2:c.897+12C>T | XP_011537082.1:n.897+12C>T | |
| XR_001748875.2:n.1017+12C>T | ||
| NM_015665.6:c.996+12C>T MANE Select | NP_056480.1:n.996+12C>T | |
| NM_001173466.2:c.897+12C>T | NP_001166937.1:n.897+12C>T |