Linked Data
ClinVar Variation Id:
1011665
ClinVar RCV Id:
RCV001309500
dbSNP Id:
rs769026137
ExAC:
17:6607254 C / T
gnomAD v2:
17-6607254-C-T
gnomAD v4:
17-6703935-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6703935C>T , CM000679.2:g.6703935C>T | GRCh38 |
| NC_000017.10:g.6607254C>T , CM000679.1:g.6607254C>T | GRCh37 |
| NC_000017.9:g.6547978C>T | NCBI36 |
| NG_034220.1:g.14487G>A , LRG_1020:g.14487G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433363.7:c.490G>A MANE Select | ENSP00000406220.2:p.Ala164Thr | |
| ENST00000293800.10:c.439G>A | ENSP00000293800.6:p.Ala147Thr | |
| ENST00000381074.8:c.361G>A | ENSP00000370464.4:p.Ala121Thr | |
| ENST00000433363.6:c.490G>A | ENSP00000406220.2:p.Ala164Thr | |
| ENST00000572094.1:c.*240G>A | ENSP00000461495.1:n.*240G>A | |
| ENST00000572352.5:c.379G>A | ENSP00000461622.1:p.Ala127Thr | |
| ENST00000573648.5:c.490G>A | ENSP00000459372.1:p.Ala164Thr | |
| ENST00000574824.5:n.1623G>A | ||
| ENST00000576323.1:n.520G>A | ||
| NM_001143838.2:c.490G>A | NP_001137310.1:p.Ala164Thr | |
| NM_001284509.1:c.439G>A | NP_001271438.1:p.Ala147Thr | |
| NM_001284510.1:c.361G>A | NP_001271439.1:p.Ala121Thr | |
| NM_177550.4:c.490G>A , LRG_1020t1:c.490G>A | NP_808218.1:p.Ala164Thr | |
| XM_006721504.2:c.379G>A | XP_006721567.1:p.Ala127Thr | |
| XM_011523795.1:c.490G>A | XP_011522097.1:p.Ala164Thr | |
| XM_011523795.3:c.490G>A | XP_011522097.1:p.Ala164Thr | |
| NM_001143838.3:c.490G>A | NP_001137310.1:p.Ala164Thr | |
| NM_001284509.2:c.439G>A | NP_001271438.1:p.Ala147Thr | |
| NM_001284510.2:c.361G>A | NP_001271439.1:p.Ala121Thr | |
| NM_177550.5:c.490G>A MANE Select | NP_808218.1:p.Ala164Thr |