Linked Data
ClinVar Variation Id:
375609
ClinVar RCV Id:
RCV000417081
dbSNP Id:
rs770740586
ExAC:
1:220089243 G / A
gnomAD v2:
1-220089243-G-A
gnomAD v4:
1-219915901-G-A
PubMed:
PMID:22934317
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.219915901G>A , CM000663.2:g.219915901G>A | GRCh38 |
| NC_000001.10:g.220089243G>A , CM000663.1:g.220089243G>A | GRCh37 |
| NC_000001.9:g.218155866G>A | NCBI36 |
| NG_032153.1:g.17751C>T | |
| NG_032153.2:g.17751C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696608.1:c.817C>T | ENSP00000512752.1:p.His273Tyr | |
| ENST00000366926.4:c.1006C>T MANE Select | ENSP00000355893.4:p.His336Tyr | |
| ENST00000356609.2:c.*372C>T | ENSP00000349018.2:n.*372C>T | |
| ENST00000366926.3:c.1006C>T | ENSP00000355893.3:p.His336Tyr | |
| ENST00000484079.1:n.824C>T | ||
| ENST00000484239.5:n.398+2354C>T | ||
| NM_018713.2:c.1006C>T | NP_061183.2:p.His336Tyr | |
| NR_046437.1:n.1255C>T | ||
| XM_006711437.2:c.817C>T | XP_006711500.2:p.His273Tyr | |
| XM_011509727.1:c.331C>T | XP_011508029.1:p.His111Tyr | |
| XM_006711437.4:c.817C>T | XP_006711500.2:p.His273Tyr | |
| XM_017001684.2:c.529C>T | XP_016857173.1:p.His177Tyr | |
| NM_001376929.1:c.817C>T | NP_001363858.1:p.His273Tyr | |
| NM_018713.3:c.1006C>T MANE Select | NP_061183.2:p.His336Tyr | |
| NR_046437.2:n.1161C>T | ||
| NR_165031.1:n.898C>T |