Linked Data
ClinVar Variation Id:
1129407
ClinVar RCV Id:
RCV001462512
dbSNP Id:
rs1596273681
MyVariant Identifiers:
chr15:g.91354583C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90811353C>A , CM000677.2:g.90811353C>A | GRCh38 |
| NC_000015.9:g.91354583C>A , CM000677.1:g.91354583C>A | GRCh37 |
| NC_000015.8:g.89155587C>A | NCBI36 |
| NG_007272.1:g.98982C>A , LRG_20:g.98982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.4023C>A MANE Select | ENSP00000347232.3:p.Ala1341= | |
| ENST00000560559.2:n.2596C>A | ||
| ENST00000648453.1:c.4023C>A | ENSP00000497646.1:p.Ala1341= | |
| ENST00000680772.1:c.4023C>A | ENSP00000506117.1:p.Ala1341= | |
| ENST00000681142.1:c.4023C>A | ENSP00000506682.1:p.Ala1341= | |
| ENST00000355112.7:c.4023C>A | ENSP00000347232.3:p.Ala1341= | |
| ENST00000558825.5:n.1370C>A | ||
| ENST00000559724.5:c.*2947C>A | ENSP00000453359.1:n.*2947C>A | |
| ENST00000560509.5:c.3630C>A | ENSP00000454158.1:p.Ala1210= | |
| ENST00000560821.1:n.443C>A | ||
| NM_000057.3:c.4023C>A | NP_000048.1:p.Ala1341= | |
| NM_001287246.1:c.4023C>A | NP_001274175.1:p.Ala1341= | |
| NM_001287247.1:c.3630C>A | NP_001274176.1:p.Ala1210= | |
| NM_001287248.1:c.2898C>A | NP_001274177.1:p.Ala966= | |
| XM_006720632.2:c.2061C>A | XP_006720695.1:p.Ala687= | |
| XM_011521881.1:c.2709C>A | XP_011520183.1:p.Ala903= | |
| XM_011521881.2:c.2709C>A | XP_011520183.1:p.Ala903= | |
| NM_000057.4:c.4023C>A MANE Select | NP_000048.1:p.Ala1341= | |
| NM_001287246.2:c.4023C>A | NP_001274175.1:p.Ala1341= | |
| NM_001287247.2:c.3630C>A | NP_001274176.1:p.Ala1210= | |
| NM_001287248.2:c.2898C>A | NP_001274177.1:p.Ala966= |