Linked Data
ClinVar Variation Id:
9264
dbSNP Id:
rs137852634
ExAC:
12:6458147 G / A
gnomAD v2:
12-6458147-G-A
gnomAD v3:
12-6348981-G-A
gnomAD v4:
12-6348981-G-A
COSMIC:
COSM1224943
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6348981G>A , CM000674.2:g.6348981G>A | GRCh38 |
| NC_000012.11:g.6458147G>A , CM000674.1:g.6458147G>A | GRCh37 |
| NC_000012.10:g.6328408G>A | NCBI36 |
| NG_011945.1:g.33377C>T | |
| NG_011945.2:g.33377C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1522C>T MANE Select | ENSP00000228916.2:p.Arg508Ter | |
| ENST00000228916.6:c.1522C>T | ENSP00000228916.2:p.Arg508Ter | |
| ENST00000338748.9:c.*593C>T | ENSP00000345028.5:n.*593C>T | |
| ENST00000360168.7:c.1699C>T | ENSP00000353292.3:p.Arg567Ter | |
| ENST00000396966.6:c.1464C>T | ENSP00000380166.2:p.Arg488= | |
| ENST00000457871.2:n.469C>T | ||
| ENST00000539953.1:n.123C>T | ||
| ENST00000540037.5:c.622C>T | ENSP00000440876.1:p.Arg208Ter | |
| ENST00000543768.1:c.1591C>T | ENSP00000438739.1:p.Arg531Ter | |
| NM_001038.5:c.1522C>T | NP_001029.1:p.Arg508Ter | |
| NM_001159575.1:c.1591C>T | NP_001153047.1:p.Arg531Ter | |
| NM_001159576.1:c.1699C>T | NP_001153048.1:p.Arg567Ter | |
| XR_001748982.1:n.87+714G>A | ||
| XR_001748983.1:n.87+714G>A | ||
| XR_001748984.1:n.87+714G>A | ||
| NM_001038.6:c.1522C>T MANE Select | NP_001029.1:p.Arg508Ter | |
| NM_001159576.2:c.1699C>T | NP_001153048.1:p.Arg567Ter | |
| NM_001159575.2:c.1591C>T | NP_001153047.1:p.Arg531Ter |