Linked Data
ClinVar Variation Id:
310128
dbSNP Id:
rs62620999
gnomAD v2:
12-6456926-G-A
gnomAD v3:
12-6347760-G-A
gnomAD v4:
12-6347760-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6347760G>A , CM000674.2:g.6347760G>A | GRCh38 |
| NC_000012.11:g.6456926G>A , CM000674.1:g.6456926G>A | GRCh37 |
| NC_000012.10:g.6327187G>A | NCBI36 |
| NG_011945.1:g.34598C>T | |
| NG_011945.2:g.34598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.*113C>T MANE Select | ENSP00000228916.2:n.*113C>T | |
| ENST00000228916.6:c.*113C>T | ENSP00000228916.2:n.*113C>T | |
| ENST00000338748.9:c.*1194C>T | ENSP00000345028.5:n.*1194C>T | |
| ENST00000360168.7:c.*113C>T | ENSP00000353292.3:n.*113C>T | |
| ENST00000396966.6:c.*529C>T | ENSP00000380166.2:n.*529C>T | |
| ENST00000540037.5:c.*113C>T | ENSP00000440876.1:n.*113C>T | |
| ENST00000543768.1:c.*113C>T | ENSP00000438739.1:n.*113C>T | |
| NM_001038.5:c.*113C>T | NP_001029.1:n.*113C>T | |
| NM_001159575.1:c.*113C>T | NP_001153047.1:n.*113C>T | |
| NM_001159576.1:c.*113C>T | NP_001153048.1:n.*113C>T | |
| NM_001038.6:c.*113C>T MANE Select | NP_001029.1:n.*113C>T | |
| NM_001159576.2:c.*113C>T | NP_001153048.1:n.*113C>T | |
| NM_001159575.2:c.*113C>T | NP_001153047.1:n.*113C>T |