Linked Data
ClinVar Variation Id:
1369310
ClinVar RCV Id:
RCV001894870
dbSNP Id:
rs145028869
ExAC:
11:118373914 G / A
gnomAD v2:
11-118373914-G-A
gnomAD v3:
11-118503199-G-A
gnomAD v4:
11-118503199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.118503199G>A , CM000673.2:g.118503199G>A | GRCh38 |
| NC_000011.9:g.118373914G>A , CM000673.1:g.118373914G>A | GRCh37 |
| NC_000011.8:g.117879124G>A | NCBI36 |
| NG_027813.1:g.71710G>A , LRG_613:g.71710G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531904.7:c.7406G>A | ENSP00000432391.3:p.Cys2469Tyr | |
| ENST00000710560.1:c.7397G>A | ENSP00000518343.1:p.Cys2466Tyr | |
| ENST00000649878.2:c.1346G>A | ENSP00000497891.2:p.Cys449Tyr | |
| ENST00000685397.1:c.1346G>A | ENSP00000509586.1:p.Cys449Tyr | |
| ENST00000686370.1:c.1346G>A | ENSP00000509179.1:p.Cys449Tyr | |
| ENST00000689424.1:c.1604G>A | ENSP00000509852.1:p.Cys535Tyr | |
| ENST00000691053.1:c.7379G>A | ENSP00000509168.1:p.Cys2460Tyr | |
| ENST00000389506.10:c.7298G>A | ENSP00000374157.5:p.Cys2433Tyr | |
| ENST00000528278.2:n.6649G>A | ||
| ENST00000534358.8:c.7307G>A MANE Select | ENSP00000436786.2:p.Cys2436Tyr | |
| ENST00000649699.1:c.7184G>A | ENSP00000496927.1:p.Cys2395Tyr | |
| ENST00000389506.9:c.7298G>A | ENSP00000374157.5:p.Cys2433Tyr | |
| ENST00000528278.1:n.1434G>A | ||
| ENST00000534358.5:c.7307G>A | ENSP00000436786.1:p.Cys2436Tyr | |
| NM_001197104.1:c.7307G>A , LRG_613t1:c.7307G>A | NP_001184033.1:p.Cys2436Tyr | |
| NM_005933.3:c.7298G>A | NP_005924.2:p.Cys2433Tyr | |
| XM_006718839.2:c.4790G>A | XP_006718902.2:p.Cys1597Tyr | |
| XM_011542829.1:c.7406G>A | XP_011541131.1:p.Cys2469Tyr | |
| XM_011542830.1:c.7403G>A | XP_011541132.1:p.Cys2468Tyr | |
| XM_011542831.1:c.7397G>A | XP_011541133.1:p.Cys2466Tyr | |
| XM_011542832.1:c.5213G>A | XP_011541134.1:p.Cys1738Tyr | |
| XM_011542833.1:c.4889G>A | XP_011541135.1:p.Cys1630Tyr | |
| XM_006718839.3:c.4790G>A | XP_006718902.2:p.Cys1597Tyr | |
| XM_011542829.2:c.7406G>A | XP_011541131.1:p.Cys2469Tyr | |
| XM_011542830.2:c.7403G>A | XP_011541132.1:p.Cys2468Tyr | |
| XM_011542831.2:c.7397G>A | XP_011541133.1:p.Cys2466Tyr | |
| XM_011542833.2:c.4889G>A | XP_011541135.1:p.Cys1630Tyr | |
| NM_001197104.2:c.7307G>A MANE Select | NP_001184033.1:p.Cys2436Tyr | |
| NM_005933.4:c.7298G>A | NP_005924.2:p.Cys2433Tyr |