Linked Data
ClinVar Variation Id:
308442
dbSNP Id:
rs567955032
gnomAD v2:
12-32899778-T-C
gnomAD v3:
12-32746844-T-C
gnomAD v4:
12-32746844-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32746844T>C , CM000674.2:g.32746844T>C | GRCh38 |
| NC_000012.11:g.32899778T>C , CM000674.1:g.32899778T>C | GRCh37 |
| NC_000012.10:g.32791045T>C | NCBI36 |
| NG_012219.1:g.72642T>C | |
| NG_028122.1:g.14110A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324868.13:c.*360A>G MANE Select | ENSP00000320658.8:n.*360A>G | |
| ENST00000324868.12:c.*360A>G | ENSP00000320658.8:n.*360A>G | |
| ENST00000551673.5:n.459+232A>G | ||
| NM_001040436.2:c.*360A>G | NP_001035526.1:n.*360A>G | |
| XR_242891.3:n.1649+232A>G | ||
| XR_242892.3:n.1649+232A>G | ||
| XR_429036.1:n.1649+232A>G | ||
| XR_931296.1:n.1649+232A>G | ||
| XR_931297.1:n.1649+232A>G | ||
| XR_931298.1:n.1649+232A>G | ||
| XR_931299.1:n.1649+232A>G | ||
| XR_001748730.2:n.2146+232A>G | ||
| XR_002957331.1:n.2146+232A>G | ||
| XR_242892.5:n.2146+232A>G | ||
| XR_931296.3:n.2146+232A>G | ||
| NM_001040436.3:c.*360A>G MANE Select | NP_001035526.1:n.*360A>G |