Linked Data
ClinVar Variation Id:
435139
dbSNP Id:
rs747865842
ExAC:
X:14862041 A / C
gnomAD v2:
X-14862041-A-C
gnomAD v3:
X-14843919-A-C
gnomAD v4:
X-14843919-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.14843919A>C , CM000685.2:g.14843919A>C | GRCh38 |
| NC_000023.10:g.14862041A>C , CM000685.1:g.14862041A>C | GRCh37 |
| NC_000023.9:g.14771962A>C | NCBI36 |
| NG_007310.1:g.34144T>G , LRG_496:g.34144T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452869.2:c.2228T>G | ENSP00000397849.2:p.Phe743Cys | |
| ENST00000643728.2:c.*1307T>G | ENSP00000495047.1:n.*1307T>G | |
| ENST00000696311.1:c.2228T>G | ENSP00000512549.1:p.Phe743Cys | |
| ENST00000696312.1:c.2228T>G | ENSP00000512550.1:p.Phe743Cys | |
| ENST00000696322.1:c.1601T>G | ||
| ENST00000696351.1:c.2228T>G | ENSP00000512572.1:p.Phe743Cys | |
| ENST00000696352.1:c.2228T>G | ENSP00000512573.1:p.Phe743Cys | |
| ENST00000696353.1:c.2228T>G | ENSP00000512574.1:p.Phe743Cys | |
| ENST00000696354.1:c.2228T>G | ENSP00000512575.1:p.Phe743Cys | |
| ENST00000696355.1:c.*258T>G | ENSP00000512576.1:n.*258T>G | |
| ENST00000696356.1:c.2228T>G | ENSP00000512577.1:p.Phe743Cys | |
| ENST00000696357.1:c.2228T>G | ENSP00000512578.1:p.Phe743Cys | |
| ENST00000643728.1:c.*1307T>G | ENSP00000495047.1:n.*1307T>G | |
| ENST00000646255.1:c.*1220T>G | ENSP00000494963.1:n.*1220T>G | |
| ENST00000650831.1:c.2228T>G MANE Select | ENSP00000498215.1:p.Phe743Cys | |
| ENST00000324138.7:c.2228T>G | ENSP00000326819.3:p.Phe743Cys | |
| ENST00000398334.5:c.2228T>G | ENSP00000381378.1:p.Phe743Cys | |
| ENST00000452869.1:c.2228T>G | ENSP00000397849.1:p.Phe743Cys | |
| NM_001018113.1:c.2228T>G , LRG_496t1:c.2228T>G | NP_001018123.1:p.Phe743Cys | |
| NM_152633.2:c.2228T>G | NP_689846.1:p.Phe743Cys | |
| XM_011545470.1:c.2228T>G | XP_011543772.1:p.Phe743Cys | |
| NM_001018113.2:c.2228T>G | NP_001018123.1:p.Phe743Cys | |
| NM_001324162.1:c.2228T>G | NP_001311091.1:p.Phe743Cys | |
| NM_152633.3:c.2228T>G | NP_689846.1:p.Phe743Cys | |
| XM_011545470.2:c.2228T>G | XP_011543772.1:p.Phe743Cys | |
| XM_017029355.2:c.2228T>G | XP_016884844.1:p.Phe743Cys | |
| XM_017029356.1:c.2228T>G | XP_016884845.1:p.Phe743Cys | |
| XR_001755672.1:n.2689T>G | ||
| XR_001755673.1:n.2481T>G | ||
| XR_001755674.1:n.2382T>G | ||
| NM_001018113.3:c.2228T>G MANE Select | NP_001018123.1:p.Phe743Cys | |
| NM_001324162.2:c.2228T>G | NP_001311091.1:p.Phe743Cys | |
| NM_152633.4:c.2228T>G | NP_689846.1:p.Phe743Cys |