Linked Data
ClinVar Variation Id:
445760
dbSNP Id:
rs138727886
ExAC:
X:19369513 G / A
gnomAD v2:
X-19369513-G-A
gnomAD v3:
X-19351395-G-A
gnomAD v4:
X-19351395-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19351395G>A , CM000685.2:g.19351395G>A | GRCh38 |
| NC_000023.10:g.19369513G>A , CM000685.1:g.19369513G>A | GRCh37 |
| NC_000023.9:g.19279434G>A | NCBI36 |
| NG_016781.1:g.12503G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.427G>A | ENSP00000348062.6:p.Ala143Thr | |
| ENST00000379805.4:c.406G>A | ENSP00000369133.3:p.Ala136Thr | |
| ENST00000417819.6:c.490G>A | ENSP00000404616.2:p.Ala164Thr | |
| ENST00000423505.6:c.520G>A | ENSP00000406473.2:p.Ala174Thr | |
| ENST00000696704.1:c.406G>A | ENSP00000512823.1:p.Ala136Thr | |
| ENST00000696705.1:c.406G>A | ENSP00000512824.1:p.Ala136Thr | |
| ENST00000422285.7:c.406G>A MANE Select | ENSP00000394382.2:p.Ala136Thr | |
| ENST00000355808.9:c.427G>A | ENSP00000348062.5:p.Ala143Thr | |
| ENST00000379805.3:c.406G>A | ENSP00000369133.3:p.Ala136Thr | |
| ENST00000379806.9:c.520G>A | ENSP00000369134.5:p.Ala174Thr | |
| ENST00000422285.6:c.406G>A | ENSP00000394382.2:p.Ala136Thr | |
| ENST00000423505.5:c.520G>A | ENSP00000406473.1:p.Ala174Thr | |
| ENST00000492364.1:n.508G>A | ||
| ENST00000540249.5:c.406G>A | ENSP00000440761.1:p.Ala136Thr | |
| ENST00000545074.5:c.427G>A | ENSP00000438550.1:p.Ala143Thr | |
| NM_000284.3:c.406G>A | NP_000275.1:p.Ala136Thr | |
| NM_001173454.1:c.520G>A | NP_001166925.1:p.Ala174Thr | |
| NM_001173455.1:c.427G>A | NP_001166926.1:p.Ala143Thr | |
| NM_001173456.1:c.406G>A | NP_001166927.1:p.Ala136Thr | |
| XM_011545531.1:c.541G>A | XP_011543833.1:p.Ala181Thr | |
| XM_011545532.1:c.541G>A | XP_011543834.1:p.Ala181Thr | |
| XM_017029574.2:c.520G>A | XP_016885063.1:p.Ala174Thr | |
| NM_000284.4:c.406G>A MANE Select | NP_000275.1:p.Ala136Thr | |
| NM_001173454.2:c.520G>A | NP_001166925.1:p.Ala174Thr | |
| NM_001173455.2:c.427G>A | NP_001166926.1:p.Ala143Thr | |
| NM_001173456.2:c.406G>A | NP_001166927.1:p.Ala136Thr |