Linked Data
ClinVar Variation Id:
512592
dbSNP Id:
rs782117973
ExAC:
X:135080710 G / A
gnomAD v2:
X-135080710-G-A
gnomAD v3:
X-135998551-G-A
gnomAD v4:
X-135998551-G-A
ERepo:
CA10524682/MONDO:0010278/033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.135998551G>A , CM000685.2:g.135998551G>A | GRCh38 |
| NC_000023.10:g.135080710G>A , CM000685.1:g.135080710G>A | GRCh37 |
| NC_000023.9:g.134908376G>A | NCBI36 |
| NG_017160.1:g.18125G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370695.8:c.673G>A | ENSP00000359729.4:p.Val225Ile | |
| ENST00000370701.6:c.517G>A | ENSP00000359735.1:p.Val173Ile | |
| ENST00000630721.3:c.517G>A MANE Select | ENSP00000487486.2:p.Val173Ile | |
| ENST00000636092.1:c.517G>A | ENSP00000490406.1:p.Val173Ile | |
| ENST00000636347.1:c.517G>A | ENSP00000490648.1:p.Val173Ile | |
| ENST00000637195.1:c.421G>A | ENSP00000490330.1:p.Val141Ile | |
| ENST00000637234.1:c.517G>A | ENSP00000490527.1:p.Val173Ile | |
| ENST00000637581.1:c.517G>A | ENSP00000490731.1:p.Val173Ile | |
| ENST00000643775.1:n.460G>A | ||
| ENST00000674809.1:c.460G>A | ENSP00000502455.1:p.Val154Ile | |
| ENST00000675550.1:n.458G>A | ||
| ENST00000675856.1:n.460G>A | ||
| ENST00000676043.1:c.460G>A | ENSP00000501920.1:p.Val154Ile | |
| ENST00000678163.1:c.673G>A | ENSP00000502845.1:p.Val225Ile | |
| ENST00000370695.6:c.673G>A | ENSP00000359729.4:p.Val225Ile | |
| ENST00000370698.7:c.577G>A | ENSP00000359732.3:p.Val193Ile | |
| ENST00000370701.5:c.517G>A | ENSP00000359735.1:p.Val173Ile | |
| ENST00000627534.2:c.517G>A | ENSP00000486743.1:p.Val173Ile | |
| NM_001042537.1:c.673G>A | NP_001036002.1:p.Val225Ile | |
| NM_001177651.1:c.517G>A | NP_001171122.1:p.Val173Ile | |
| NM_006359.2:c.577G>A | NP_006350.1:p.Val193Ile | |
| XM_006724726.2:c.517G>A | XP_006724789.1:p.Val173Ile | |
| XM_011531243.1:c.421G>A | XP_011529545.1:p.Val141Ile | |
| NM_001330652.1:c.421G>A | NP_001317581.1:p.Val141Ile | |
| XM_006724726.3:c.517G>A | XP_006724789.1:p.Val173Ile | |
| XM_017029223.2:c.517G>A | XP_016884712.1:p.Val173Ile | |
| XM_017029224.1:c.517G>A | XP_016884713.1:p.Val173Ile | |
| XM_017029225.1:c.421G>A | XP_016884714.1:p.Val141Ile | |
| NM_001177651.2:c.517G>A | NP_001171122.1:p.Val173Ile | |
| NM_001330652.2:c.421G>A | NP_001317581.1:p.Val141Ile | |
| NM_006359.3:c.577G>A | NP_006350.1:p.Val193Ile | |
| NM_001042537.2:c.673G>A | NP_001036002.1:p.Val225Ile | |
| NM_001379110.1:c.517G>A MANE Select | NP_001366039.1:p.Val173Ile | |
| NM_001400909.1:c.517G>A | NP_001387838.1:p.Val173Ile | |
| NM_001400910.1:c.517G>A | NP_001387839.1:p.Val173Ile | |
| NM_001400911.1:c.517G>A | NP_001387840.1:p.Val173Ile | |
| NM_001400912.1:c.517G>A | NP_001387841.1:p.Val173Ile | |
| NM_001400913.1:c.421G>A | NP_001387842.1:p.Val141Ile |