Linked Data
ClinVar Variation Id:
456186
ClinVar RCV Id:
RCV000532263
dbSNP Id:
rs996732250
gnomAD v4:
X-14865459-A-G
COSMIC:
COSM3736492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.14865459A>G , CM000685.2:g.14865459A>G | GRCh38 |
| NC_000023.10:g.14883581A>G , CM000685.1:g.14883581A>G | GRCh37 |
| NC_000023.9:g.14793502A>G | NCBI36 |
| NG_007310.1:g.12604T>C , LRG_496:g.12604T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452869.2:c.52T>C | ENSP00000397849.2:p.Tyr18His | |
| ENST00000643728.2:c.52T>C | ENSP00000495047.1:p.Tyr18His | |
| ENST00000696311.1:c.52T>C | ENSP00000512549.1:p.Tyr18His | |
| ENST00000696312.1:c.52T>C | ENSP00000512550.1:p.Tyr18His | |
| ENST00000696313.1:c.52T>C | ENSP00000512551.1:p.Tyr18His | |
| ENST00000696323.1:n.317T>C | ||
| ENST00000696351.1:c.52T>C | ENSP00000512572.1:p.Tyr18His | |
| ENST00000696352.1:c.52T>C | ENSP00000512573.1:p.Tyr18His | |
| ENST00000696353.1:c.52T>C | ENSP00000512574.1:p.Tyr18His | |
| ENST00000696354.1:c.52T>C | ENSP00000512575.1:p.Tyr18His | |
| ENST00000696355.1:c.52T>C | ENSP00000512576.1:p.Tyr18His | |
| ENST00000696356.1:c.52T>C | ENSP00000512577.1:p.Tyr18His | |
| ENST00000696357.1:c.52T>C | ENSP00000512578.1:p.Tyr18His | |
| ENST00000643728.1:c.52T>C | ENSP00000495047.1:p.Tyr18His | |
| ENST00000646255.1:c.52T>C | ENSP00000494963.1:p.Tyr18His | |
| ENST00000650831.1:c.52T>C MANE Select | ENSP00000498215.1:p.Tyr18His | |
| ENST00000324138.7:c.52T>C | ENSP00000326819.3:p.Tyr18His | |
| ENST00000398334.5:c.52T>C | ENSP00000381378.1:p.Tyr18His | |
| ENST00000452869.1:c.52T>C | ENSP00000397849.1:p.Tyr18His | |
| ENST00000489126.1:n.443T>C | ||
| NM_001018113.1:c.52T>C , LRG_496t1:c.52T>C | NP_001018123.1:p.Tyr18His | |
| NM_152633.2:c.52T>C | NP_689846.1:p.Tyr18His | |
| XM_011545470.1:c.52T>C | XP_011543772.1:p.Tyr18His | |
| NM_001018113.2:c.52T>C | NP_001018123.1:p.Tyr18His | |
| NM_001324162.1:c.52T>C | NP_001311091.1:p.Tyr18His | |
| NM_152633.3:c.52T>C | NP_689846.1:p.Tyr18His | |
| NR_136707.1:n.327T>C | ||
| XM_011545470.2:c.52T>C | XP_011543772.1:p.Tyr18His | |
| XM_017029355.2:c.52T>C | XP_016884844.1:p.Tyr18His | |
| XM_017029356.1:c.52T>C | XP_016884845.1:p.Tyr18His | |
| XR_001755672.1:n.513T>C | ||
| XR_001755673.1:n.305T>C | ||
| XR_001755674.1:n.206T>C | ||
| NM_001018113.3:c.52T>C MANE Select | NP_001018123.1:p.Tyr18His | |
| NM_001324162.2:c.52T>C | NP_001311091.1:p.Tyr18His | |
| NM_152633.4:c.52T>C | NP_689846.1:p.Tyr18His | |
| NR_136707.2:n.327T>C |