Linked Data
ClinVar Variation Id:
15888
ClinVar RCV Id:
RCV000017234
dbSNP Id:
rs33944813
gnomAD v4:
16-177102-A-G
PubMed:
PMID:15481890
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.177102A>G , CM000678.2:g.177102A>G | GRCh38 |
| NC_000016.9:g.227101A>G , CM000678.1:g.227101A>G | GRCh37 |
| NC_000016.8:g.167101A>G | NCBI36 |
| NG_000006.1:g.37965A>G | |
| NG_059186.1:g.5452A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320868.9:c.269A>G MANE Select | ENSP00000322421.5:p.His90Arg | |
| ENST00000397797.1:c.173A>G | ENSP00000380899.1:p.His58Arg | |
| ENST00000472694.1:n.405A>G | ||
| ENST00000487791.1:n.238A>G | ||
| NM_000558.4:c.269A>G | NP_000549.1:p.His90Arg | |
| NM_000558.5:c.269A>G MANE Select | NP_000549.1:p.His90Arg |