Linked Data
ClinVar Variation Id:
1060697
dbSNP Id:
rs1424485988
gnomAD v2:
15-91310200-C-A
gnomAD v4:
15-90766970-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90766970C>A , CM000677.2:g.90766970C>A | GRCh38 |
| NC_000015.9:g.91310200C>A , CM000677.1:g.91310200C>A | GRCh37 |
| NC_000015.8:g.89111204C>A | NCBI36 |
| NG_007272.1:g.54599C>A , LRG_20:g.54599C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.2254C>A MANE Select | ENSP00000347232.3:p.Gln752Lys | |
| ENST00000648453.1:c.2254C>A | ENSP00000497646.1:p.Gln752Lys | |
| ENST00000680772.1:c.2254C>A | ENSP00000506117.1:p.Gln752Lys | |
| ENST00000681142.1:c.2254C>A | ENSP00000506682.1:p.Gln752Lys | |
| ENST00000355112.7:c.2254C>A | ENSP00000347232.3:p.Gln752Lys | |
| ENST00000559426.5:n.431C>A | ||
| ENST00000559724.5:c.*1178C>A | ENSP00000453359.1:n.*1178C>A | |
| ENST00000560136.5:n.280C>A | ||
| ENST00000560509.5:c.2254C>A | ENSP00000454158.1:p.Gln752Lys | |
| NM_000057.3:c.2254C>A | NP_000048.1:p.Gln752Lys | |
| NM_001287246.1:c.2254C>A | NP_001274175.1:p.Gln752Lys | |
| NM_001287247.1:c.2254C>A | NP_001274176.1:p.Gln752Lys | |
| NM_001287248.1:c.1129C>A | NP_001274177.1:p.Gln377Lys | |
| XM_006720632.2:c.292C>A | XP_006720695.1:p.Gln98Lys | |
| XM_011521881.1:c.940C>A | XP_011520183.1:p.Gln314Lys | |
| XM_011521882.1:c.2254C>A | XP_011520184.1:p.Gln752Lys | |
| XM_011521881.2:c.940C>A | XP_011520183.1:p.Gln314Lys | |
| XM_011521882.3:c.2254C>A | XP_011520184.1:p.Gln752Lys | |
| NM_000057.4:c.2254C>A MANE Select | NP_000048.1:p.Gln752Lys | |
| NM_001287246.2:c.2254C>A | NP_001274175.1:p.Gln752Lys | |
| NM_001287247.2:c.2254C>A | NP_001274176.1:p.Gln752Lys | |
| NM_001287248.2:c.1129C>A | NP_001274177.1:p.Gln377Lys |