Linked Data
ClinVar Variation Id:
309746
dbSNP Id:
rs149864679
gnomAD v2:
12-53715379-G-A
gnomAD v3:
12-53321595-G-A
gnomAD v4:
12-53321595-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53321595G>A , CM000674.2:g.53321595G>A | GRCh38 |
| NC_000012.11:g.53715379G>A , CM000674.1:g.53715379G>A | GRCh37 |
| NC_000012.10:g.52001646G>A | NCBI36 |
| NG_016775.1:g.5034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.-130C>T MANE Select | ENSP00000209873.4:n.-130C>T | |
| ENST00000546562.6:n.16C>T | ||
| ENST00000548880.2:n.21C>T | ||
| ENST00000209873.8:c.-130C>T | ENSP00000209873.4:n.-130C>T | |
| ENST00000394384.7:c.-130C>T | ENSP00000377908.3:n.-130C>T | |
| ENST00000546562.5:n.16C>T | ||
| ENST00000547761.6:n.107+282C>T | ||
| ENST00000548258.5:n.152-903C>T | ||
| ENST00000549821.5:n.121+282C>T | ||
| ENST00000549983.5:n.22C>T | ||
| ENST00000550286.5:c.-157-903C>T | ENSP00000446885.1:n.-157-903C>T | |
| ENST00000551724.5:n.174-903C>T | ||
| NM_001173466.1:c.-130C>T | NP_001166937.1:n.-130C>T | |
| NM_015665.5:c.-130C>T | NP_056480.1:n.-130C>T | |
| NM_015665.6:c.-130C>T MANE Select | NP_056480.1:n.-130C>T | |
| NM_001173466.2:c.-130C>T | NP_001166937.1:n.-130C>T |