Linked Data
ClinVar Variation Id:
14988
ClinVar RCV Id:
RCV000016128
dbSNP Id:
rs34807671
gnomAD v3:
11-5253282-G-A
gnomAD v4:
11-5253282-G-A
PubMed:
PMID:1703139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5253282G>A , CM000673.2:g.5253282G>A | GRCh38 |
| NC_000011.9:g.5274512G>A , CM000673.1:g.5274512G>A | GRCh37 |
| NC_000011.8:g.5231088G>A | NCBI36 |
| NG_000007.3:g.44334C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336906.6:c.439C>T MANE Select | ENSP00000338082.4:p.His147Tyr | |
| ENST00000380252.6:c.274C>T | ENSP00000369602.2:p.His92Tyr | |
| ENST00000642908.1:c.315+1010C>T | ENSP00000495346.1:n.315+1010C>T | |
| ENST00000647543.1:c.378+61C>T | ENSP00000496470.1:n.378+61C>T | |
| ENST00000336906.4:c.439C>T | ENSP00000338082.4:p.His147Tyr | |
| ENST00000380252.5:c.409C>T | ENSP00000369602.1:p.His137Tyr | |
| ENST00000380259.6:c.439C>T | ENSP00000369609.2:p.His147Tyr | |
| ENST00000620888.4:c.315+1010C>T | ENSP00000479637.1:n.315+1010C>T | |
| NM_000184.2:c.439C>T | NP_000175.1:p.His147Tyr | |
| NM_000184.3:c.439C>T MANE Select | NP_000175.1:p.His147Tyr |