Linked Data
ClinVar Variation Id:
571570
ClinVar RCV Id:
RCV000692748
dbSNP Id:
rs181719822
ExAC:
X:1413250 G / A
gnomAD v2:
X-1413250-G-A
gnomAD v3:
X-1294357-G-A
gnomAD v4:
X-1294357-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1294357G>A , CM000685.2:g.1294357G>A | GRCh38 |
| NC_000023.10:g.1413250G>A , CM000685.1:g.1413250G>A | GRCh37 |
| NC_000023.9:g.1373250G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498153.7:c.676G>A | ENSP00000512483.1:p.Val226Ile | |
| ENST00000696230.1:c.*759G>A | ENSP00000512496.1:n.*759G>A | |
| ENST00000381529.9:c.676G>A MANE Select | ENSP00000370940.3:p.Val226Ile | |
| ENST00000432318.8:c.676G>A | ENSP00000416437.2:p.Val226Ile | |
| ENST00000355432.8:c.676G>A | ENSP00000347606.3:p.Val226Ile | |
| ENST00000355805.7:c.646+3848G>A | ENSP00000348058.2:n.646+3848G>A | |
| ENST00000381500.6:c.676G>A | ENSP00000370911.1:p.Val226Ile | |
| ENST00000381509.8:c.676G>A | ENSP00000370920.3:p.Val226Ile | |
| ENST00000381524.8:c.676G>A | ENSP00000370935.3:p.Val226Ile | |
| ENST00000381529.8:c.676G>A | ENSP00000370940.3:p.Val226Ile | |
| ENST00000412290.6:c.676G>A | ENSP00000410667.1:p.Val226Ile | |
| ENST00000417535.7:c.676G>A | ENSP00000394227.2:p.Val226Ile | |
| ENST00000432318.7:c.676G>A | ENSP00000416437.2:p.Val226Ile | |
| ENST00000475259.6:n.87G>A | ||
| ENST00000486791.6:c.676G>A | ENSP00000436825.1:p.Val226Ile | |
| ENST00000491683.6:n.133G>A | ||
| ENST00000493312.6:n.713G>A | ||
| ENST00000494969.7:c.244+7159G>A | ENSP00000476684.1:n.244+7159G>A | |
| ENST00000498153.6:n.30G>A | ||
| ENST00000501036.7:c.277G>A | ENSP00000440491.1:p.Val93Ile | |
| XM_011546165.1:c.676G>A | XP_011544467.1:p.Val226Ile | |
| XM_011546166.1:c.676G>A | XP_011544468.1:p.Val226Ile | |
| XM_011546167.1:c.676G>A | XP_011544469.1:p.Val226Ile | |
| XM_011546168.1:c.676G>A | XP_011544470.1:p.Val226Ile | |
| XM_011546169.1:c.676G>A | XP_011544471.1:p.Val226Ile | |
| XM_011546170.1:c.676G>A | XP_011544472.1:p.Val226Ile | |
| XM_011546171.1:c.676G>A | XP_011544473.1:p.Val226Ile | |
| XM_011546172.1:c.676G>A | XP_011544474.1:p.Val226Ile | |
| XM_011546173.1:c.676G>A | XP_011544475.1:p.Val226Ile | |
| XM_011546174.1:c.676G>A | XP_011544476.1:p.Val226Ile | |
| XM_011546175.1:c.676G>A | XP_011544477.1:p.Val226Ile | |
| XM_011546176.1:c.544G>A | XP_011544478.1:p.Val182Ile | |
| XM_011546165.3:c.676G>A | XP_011544467.1:p.Val226Ile | |
| XM_011546167.2:c.676G>A | XP_011544469.1:p.Val226Ile | |
| XM_011546168.2:c.676G>A | XP_011544470.1:p.Val226Ile | |
| XM_011546170.3:c.676G>A | XP_011544472.1:p.Val226Ile | |
| XM_011546174.3:c.676G>A | XP_011544476.1:p.Val226Ile | |
| XM_011546175.2:c.676G>A | XP_011544477.1:p.Val226Ile | |
| XM_017029287.1:c.676G>A | XP_016884776.1:p.Val226Ile | |
| XM_017029288.1:c.676G>A | XP_016884777.1:p.Val226Ile |