Linked Data
dbSNP Id:
rs777155954
ExAC:
X:1413291 G / C
gnomAD v2:
X-1413291-G-C
gnomAD v3:
X-1294398-G-C
gnomAD v4:
X-1294398-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.1294398G>C , CM000685.2:g.1294398G>C | GRCh38 |
| NC_000023.10:g.1413291G>C , CM000685.1:g.1413291G>C | GRCh37 |
| NC_000023.9:g.1373291G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000498153.7:c.717G>C | ENSP00000512483.1:p.Gln239His | |
| ENST00000696230.1:c.*800G>C | ENSP00000512496.1:n.*800G>C | |
| ENST00000381529.9:c.717G>C MANE Select | ENSP00000370940.3:p.Gln239His | |
| ENST00000432318.8:c.717G>C | ENSP00000416437.2:p.Gln239His | |
| ENST00000355432.8:c.717G>C | ENSP00000347606.3:p.Gln239His | |
| ENST00000355805.7:c.646+3889G>C | ENSP00000348058.2:n.646+3889G>C | |
| ENST00000381500.6:c.717G>C | ENSP00000370911.1:p.Gln239His | |
| ENST00000381509.8:c.717G>C | ENSP00000370920.3:p.Gln239His | |
| ENST00000381524.8:c.717G>C | ENSP00000370935.3:p.Gln239His | |
| ENST00000381529.8:c.717G>C | ENSP00000370940.3:p.Gln239His | |
| ENST00000417535.7:c.717G>C | ENSP00000394227.2:p.Gln239His | |
| ENST00000432318.7:c.717G>C | ENSP00000416437.2:p.Gln239His | |
| ENST00000475259.6:n.128G>C | ||
| ENST00000486791.6:c.717G>C | ENSP00000436825.1:p.Gln239His | |
| ENST00000491683.6:n.174G>C | ||
| ENST00000493312.6:n.754G>C | ||
| ENST00000494969.7:c.244+7200G>C | ENSP00000476684.1:n.244+7200G>C | |
| ENST00000498153.6:n.71G>C | ||
| ENST00000501036.7:c.318G>C | ENSP00000440491.1:p.Gln106His | |
| XM_011546165.1:c.717G>C | XP_011544467.1:p.Gln239His | |
| XM_011546166.1:c.717G>C | XP_011544468.1:p.Gln239His | |
| XM_011546167.1:c.717G>C | XP_011544469.1:p.Gln239His | |
| XM_011546168.1:c.717G>C | XP_011544470.1:p.Gln239His | |
| XM_011546169.1:c.717G>C | XP_011544471.1:p.Gln239His | |
| XM_011546170.1:c.717G>C | XP_011544472.1:p.Gln239His | |
| XM_011546171.1:c.717G>C | XP_011544473.1:p.Gln239His | |
| XM_011546172.1:c.717G>C | XP_011544474.1:p.Gln239His | |
| XM_011546173.1:c.717G>C | XP_011544475.1:p.Gln239His | |
| XM_011546174.1:c.717G>C | XP_011544476.1:p.Gln239His | |
| XM_011546175.1:c.717G>C | XP_011544477.1:p.Gln239His | |
| XM_011546176.1:c.585G>C | XP_011544478.1:p.Gln195His | |
| XM_011546165.3:c.717G>C | XP_011544467.1:p.Gln239His | |
| XM_011546167.2:c.717G>C | XP_011544469.1:p.Gln239His | |
| XM_011546168.2:c.717G>C | XP_011544470.1:p.Gln239His | |
| XM_011546170.3:c.717G>C | XP_011544472.1:p.Gln239His | |
| XM_011546174.3:c.717G>C | XP_011544476.1:p.Gln239His | |
| XM_011546175.2:c.717G>C | XP_011544477.1:p.Gln239His | |
| XM_017029287.1:c.717G>C | XP_016884776.1:p.Gln239His | |
| XM_017029288.1:c.717G>C | XP_016884777.1:p.Gln239His |