Linked Data
ClinVar Variation Id:
393164
ClinVar RCV Id:
RCV000434498
dbSNP Id:
rs1057524817
gnomAD v4:
7-141555499-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141555499C>A , CM000669.2:g.141555499C>A | GRCh38 |
| NC_000007.13:g.141255299C>A , CM000669.1:g.141255299C>A | GRCh37 |
| NC_000007.12:g.140901768C>A | NCBI36 |
| NG_032079.1:g.9222C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647568.1:c.33C>A | ENSP00000497039.1:p.His11Gln | |
| ENST00000648068.1:c.33C>A | ENSP00000498112.1:p.His11Gln | |
| ENST00000648395.1:c.-176+4000C>A | ENSP00000497666.1:n.-176+4000C>A | |
| ENST00000648489.1:n.64C>A | ||
| ENST00000648690.1:c.-176+4065C>A | ENSP00000497945.1:n.-176+4065C>A | |
| ENST00000649014.1:c.33C>A | ENSP00000497984.1:p.His11Gln | |
| ENST00000649286.2:c.33C>A MANE Select | ENSP00000497280.1:p.His11Gln | |
| ENST00000649365.1:c.33C>A | ENSP00000496835.1:p.His11Gln | |
| ENST00000649538.1:n.61C>A | ||
| ENST00000649790.1:c.-176+4065C>A | ENSP00000498193.1:n.-176+4065C>A | |
| ENST00000649914.1:c.-194C>A | ENSP00000497848.1:n.-194C>A | |
| ENST00000650006.1:c.33C>A | ENSP00000497457.1:p.His11Gln | |
| ENST00000650365.1:c.33C>A | ENSP00000497358.1:p.His11Gln | |
| ENST00000650547.1:c.33C>A | ENSP00000496789.1:p.His11Gln | |
| ENST00000355413.8:c.33C>A | ENSP00000347581.4:p.His11Gln | |
| ENST00000465241.5:n.44C>A | ||
| ENST00000473247.5:c.-56C>A | ENSP00000420776.1:n.-56C>A | |
| ENST00000473884.5:c.33C>A | ENSP00000420540.1:p.His11Gln | |
| ENST00000492693.5:c.33C>A | ENSP00000418789.1:p.His11Gln | |
| ENST00000494688.1:c.33C>A | ENSP00000418101.1:p.His11Gln | |
| ENST00000495028.5:n.72C>A | ||
| ENST00000496784.1:n.34C>A | ||
| ENST00000629555.2:c.33C>A | ENSP00000487274.1:p.His11Gln | |
| NM_018238.3:c.33C>A | NP_060708.1:p.His11Gln | |
| XM_005250023.3:c.33C>A | XP_005250080.1:p.His11Gln | |
| XM_011516397.1:c.33C>A | XP_011514699.1:p.His11Gln | |
| NM_001364948.1:c.33C>A | NP_001351877.1:p.His11Gln | |
| NM_018238.4:c.33C>A MANE Select | NP_060708.1:p.His11Gln | |
| XM_011516397.3:c.33C>A | XP_011514699.1:p.His11Gln | |
| XM_024446835.1:c.33C>A | XP_024302603.1:p.His11Gln | |
| NM_001364948.2:c.33C>A | NP_001351877.1:p.His11Gln | |
| NM_001364948.3:c.33C>A | NP_001351877.1:p.His11Gln |