Linked Data
ClinVar Variation Id:
45984
dbSNP Id:
rs369513655
ExAC:
10:73544668 G / A
gnomAD v2:
10-73544668-G-A
gnomAD v3:
10-71784911-G-A
gnomAD v4:
10-71784911-G-A
PubMed:
PMID:18429043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71784911G>A , CM000672.2:g.71784911G>A | GRCh38 |
| NC_000010.10:g.73544668G>A , CM000672.1:g.73544668G>A | GRCh37 |
| NC_000010.9:g.73214674G>A | NCBI36 |
| NG_008835.1:g.392965G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.5523G>A MANE Select | ENSP00000224721.9:p.Val1841= | |
| ENST00000224721.10:c.5538G>A | ENSP00000224721.8:p.Val1846= | |
| ENST00000622827.4:c.5523G>A | ENSP00000483211.1:p.Val1841= | |
| NM_022124.5:c.5523G>A | NP_071407.4:p.Val1841= | |
| XM_006717940.2:c.5718G>A | XP_006718003.1:p.Val1906= | |
| XM_006717942.2:c.5652G>A | XP_006718005.1:p.Val1884= | |
| XM_011540039.1:c.5715G>A | XP_011538341.1:p.Val1905= | |
| XM_011540040.1:c.5712G>A | XP_011538342.1:p.Val1904= | |
| XM_011540041.1:c.5658G>A | XP_011538343.1:p.Val1886= | |
| XM_011540042.1:c.5718G>A | XP_011538344.1:p.Val1906= | |
| XM_011540043.1:c.5718G>A | XP_011538345.1:p.Val1906= | |
| XM_011540044.1:c.5583G>A | XP_011538346.1:p.Val1861= | |
| XM_011540045.1:c.5718G>A | XP_011538347.1:p.Val1906= | |
| XM_011540046.1:c.5178G>A | XP_011538348.1:p.Val1726= | |
| XM_011540047.1:c.4536G>A | XP_011538349.1:p.Val1512= | |
| XM_011540048.1:c.5718G>A | XP_011538350.1:p.Val1906= | |
| XM_011540049.1:c.5718G>A | XP_011538351.1:p.Val1906= | |
| XM_011540050.1:c.5718G>A | XP_011538352.1:p.Val1906= | |
| XM_011540051.1:c.5718G>A | XP_011538353.1:p.Val1906= | |
| XM_011540052.1:c.2046G>A | XP_011538354.1:p.Val682= | |
| XM_011540053.1:c.5718G>A | XP_011538355.1:p.Val1906= | |
| XR_945796.1:n.5961G>A | ||
| NM_022124.6:c.5523G>A MANE Select | NP_071407.4:p.Val1841= |