Linked Data
ClinVar Variation Id:
1618773
ClinVar RCV Id:
RCV002082164
dbSNP Id:
rs779313406
ExAC:
11:8111675 C / A
gnomAD v2:
11-8111675-C-A
gnomAD v4:
11-8090128-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8090128C>A , CM000673.2:g.8090128C>A | GRCh38 |
| NC_000011.9:g.8111675C>A , CM000673.1:g.8111675C>A | GRCh37 |
| NC_000011.8:g.8068251C>A | NCBI36 |
| NG_029912.1:g.56496C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.150C>A MANE Select | ENSP00000299506.3:p.Ala50= | |
| ENST00000299506.2:c.150C>A | ENSP00000299506.2:p.Ala50= | |
| ENST00000305253.8:c.315C>A | ENSP00000305426.4:p.Ala105= | |
| ENST00000534099.5:c.168C>A | ENSP00000434400.1:p.Ala56= | |
| NM_003320.4:c.315C>A | NP_003311.2:p.Ala105= | |
| NM_177972.2:c.150C>A | NP_813977.1:p.Ala50= | |
| XM_005253109.2:c.276C>A | XP_005253166.1:p.Ala92= | |
| XM_011520344.1:c.186C>A | XP_011518646.1:p.Ala62= | |
| XM_005253109.3:c.276C>A | XP_005253166.1:p.Ala92= | |
| XM_011520344.2:c.186C>A | XP_011518646.1:p.Ala62= | |
| NM_177972.3:c.150C>A MANE Select | NP_813977.1:p.Ala50= | |
| NM_003320.5:c.315C>A | NP_003311.2:p.Ala105= |