Linked Data
ClinVar Variation Id:
15876
ClinVar RCV Id:
RCV000017222
dbSNP Id:
rs28928884
PubMed:
PMID:10569723
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177292C>T , CM000678.2:g.177292C>T | GRCh38 |
| NC_000016.9:g.227291C>T , CM000678.1:g.227291C>T | GRCh37 |
| NC_000016.8:g.167291C>T | NCBI36 |
| NG_000006.1:g.38155C>T | |
| NG_059186.1:g.5642C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320868.9:c.310C>T MANE Select | ENSP00000322421.5:p.His104Tyr | |
| ENST00000397797.1:c.214C>T | ENSP00000380899.1:p.His72Tyr | |
| ENST00000472694.1:n.446C>T | ||
| NM_000558.4:c.310C>T | NP_000549.1:p.His104Tyr | |
| NM_000558.5:c.310C>T MANE Select | NP_000549.1:p.His104Tyr |