Linked Data
ClinVar Variation Id:
517527
ClinVar RCV Id:
RCV000615818
dbSNP Id:
rs886101498
gnomAD v2:
19-36496267-G-A
gnomAD v3:
19-36005365-G-A
gnomAD v4:
19-36005365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36005365G>A , CM000681.2:g.36005365G>A | GRCh38 |
| NC_000019.9:g.36496267G>A , CM000681.1:g.36496267G>A | GRCh37 |
| NC_000019.8:g.41188107G>A | NCBI36 |
| NG_042831.1:g.8429C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.940C>T MANE Select | ENSP00000316130.3:p.His314Tyr | |
| ENST00000397428.8:c.139C>T | ||
| ENST00000465425.2:n.2037C>T | ||
| ENST00000324444.7:c.940C>T | ENSP00000316130.3:p.His314Tyr | |
| ENST00000340477.9:c.601C>T | ENSP00000343152.5:p.His201Tyr | |
| ENST00000397428.7:c.112C>T | ENSP00000380572.3:p.His38Tyr | |
| ENST00000465425.1:n.2037C>T | ||
| ENST00000490730.1:c.761C>T | ENSP00000422716.1:p.Ser254Leu | |
| ENST00000503121.5:c.243-1845C>T | ||
| ENST00000505054.2:n.467C>T | ||
| NM_001039876.1:c.940C>T | NP_001034965.1:p.His314Tyr | |
| NM_001039876.2:c.940C>T | NP_001034965.1:p.His314Tyr | |
| NM_001297735.1:c.601C>T | NP_001284664.1:p.His201Tyr | |
| NM_001297735.2:c.601C>T | NP_001284664.1:p.His201Tyr | |
| XM_005258598.2:c.761C>T | XP_005258655.1:p.Ser254Leu | |
| XM_005258601.2:c.691C>T | XP_005258658.1:p.His231Tyr | |
| XM_005258604.3:c.761C>T | XP_005258661.1:p.Ser254Leu | |
| NM_001039876.3:c.940C>T MANE Select | NP_001034965.1:p.His314Tyr | |
| NM_001297735.3:c.601C>T | NP_001284664.1:p.His201Tyr |