Linked Data
ClinVar Variation Id:
2060329
dbSNP Id:
rs557769248
ExAC:
21:34793875 G / A
gnomAD v2:
21-34793875-G-A
gnomAD v3:
21-33421568-G-A
gnomAD v4:
21-33421568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.33421568G>A , CM000683.2:g.33421568G>A | GRCh38 |
| NC_000021.8:g.34793875G>A , CM000683.1:g.34793875G>A | GRCh37 |
| NC_000021.7:g.33715745G>A | NCBI36 |
| NG_007570.2:g.41577G>A , LRG_67:g.41577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696724.1:c.190G>A | ENSP00000512835.1:p.Ala64Thr | |
| ENST00000290219.11:c.295G>A MANE Select | ENSP00000290219.5:p.Ala99Thr | |
| ENST00000290219.10:c.295G>A | ENSP00000290219.5:p.Ala99Thr | |
| ENST00000381995.5:c.352G>A | ENSP00000371425.1:p.Ala118Thr | |
| ENST00000405436.5:c.58G>A | ENSP00000385044.1:p.Ala20Thr | |
| ENST00000439213.5:c.*270G>A | ENSP00000407541.1:n.*270G>A | |
| ENST00000545369.2:c.*48G>A | ENSP00000442735.2:n.*48G>A | |
| NM_005534.3:c.295G>A , LRG_67t1:c.295G>A | NP_005525.2:p.Ala99Thr | |
| XM_005260969.2:c.352G>A | XP_005261026.1:p.Ala118Thr | |
| XM_011529553.1:c.370G>A | XP_011527855.1:p.Ala124Thr | |
| XM_011529554.1:c.301G>A | XP_011527856.1:p.Ala101Thr | |
| NM_001329128.1:c.352G>A | NP_001316057.1:p.Ala118Thr | |
| XM_011529554.2:c.301G>A | XP_011527856.1:p.Ala101Thr | |
| NM_001329128.2:c.352G>A | NP_001316057.1:p.Ala118Thr | |
| NM_005534.4:c.295G>A MANE Select | NP_005525.2:p.Ala99Thr |