Linked Data
ClinVar Variation Id:
1570582
dbSNP Id:
rs11906160
ExAC:
20:33565755 G / A
gnomAD v2:
20-33565755-G-A
gnomAD v3:
20-34977952-G-A
gnomAD v4:
20-34977952-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.34977952G>A , CM000682.2:g.34977952G>A | GRCh38 |
| NC_000020.10:g.33565755G>A , CM000682.1:g.33565755G>A | GRCh37 |
| NC_000020.9:g.33029416G>A | NCBI36 |
| NG_016984.2:g.27052G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000262873.13:c.-54G>A MANE Select | ENSP00000262873.8:n.-54G>A | |
| ENST00000262873.12:c.-54G>A | ENSP00000262873.8:n.-54G>A | |
| ENST00000618182.6:c.70G>A | ENSP00000483640.3:p.Ala24Thr | |
| ENST00000673749.1:n.481G>A | ||
| ENST00000262873.11:c.73G>A | ENSP00000262873.7:p.Ala25Thr | |
| ENST00000470929.5:n.33G>A | ||
| ENST00000618182.4:c.70G>A | ENSP00000483640.1:p.Ala24Thr | |
| NM_020884.4:c.73G>A | NP_065935.3:p.Ala25Thr | |
| XM_006723840.2:c.73G>A | XP_006723903.1:p.Ala25Thr | |
| XM_011528941.1:c.73G>A | XP_011527243.1:p.Ala25Thr | |
| XM_011528942.1:c.73G>A | XP_011527244.1:p.Ala25Thr | |
| XM_011528943.1:c.73G>A | XP_011527245.1:p.Ala25Thr | |
| XM_011528944.1:c.73G>A | XP_011527246.1:p.Ala25Thr | |
| XM_011528945.1:c.-437G>A | XP_011527247.1:n.-437G>A | |
| XM_011528950.1:c.73G>A | XP_011527252.1:p.Ala25Thr | |
| XM_006723840.3:c.73G>A | XP_006723903.1:p.Ala25Thr | |
| XM_011528941.2:c.73G>A | XP_011527243.1:p.Ala25Thr | |
| XM_017027986.1:c.73G>A | XP_016883475.1:p.Ala25Thr | |
| NM_020884.5:c.73G>A | NP_065935.3:p.Ala25Thr | |
| NM_020884.7:c.-54G>A MANE Select | NP_065935.4:n.-54G>A |