Linked Data
ClinVar Variation Id:
916
ClinVar RCV Id:
RCV000000964
dbSNP Id:
rs118203933
gnomAD v2:
8-86386008-C-T
gnomAD v4:
8-85473779-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.85473779C>T , CM000670.2:g.85473779C>T | GRCh38 |
| NC_000008.10:g.86386008C>T , CM000670.1:g.86386008C>T | GRCh37 |
| NC_000008.9:g.86573260C>T | NCBI36 |
| NG_007287.1:g.14763C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285379.10:c.319C>T MANE Select | ENSP00000285379.4:p.His107Tyr | |
| ENST00000285379.9:c.319C>T | ENSP00000285379.4:p.His107Tyr | |
| ENST00000518231.1:n.390C>T | ||
| ENST00000520127.5:c.233-545C>T | ENSP00000428443.1:n.233-545C>T | |
| ENST00000520996.5:n.398C>T | ||
| ENST00000522742.1:c.*93C>T | ENSP00000428947.1:n.*93C>T | |
| NM_000067.2:c.319C>T | NP_000058.1:p.His107Tyr | |
| NM_001293675.1:c.49-545C>T | NP_001280604.1:n.49-545C>T | |
| NM_000067.3:c.319C>T MANE Select | NP_000058.1:p.His107Tyr | |
| NM_001293675.2:c.49-545C>T | NP_001280604.1:n.49-545C>T |