Linked Data
ClinVar Variation Id:
219310
ClinVar RCV Id:
RCV000204567
dbSNP Id:
rs864622017
gnomAD v4:
20-33679830-C-T
COSMIC:
COSM1025972
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33679830C>T , CM000682.2:g.33679830C>T | GRCh38 |
| NC_000020.10:g.32267636C>T , CM000682.1:g.32267636C>T | GRCh37 |
| NC_000020.9:g.31731297C>T | NCBI36 |
| NG_046988.1:g.11575G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343380.6:c.497G>A MANE Select | ENSP00000345571.5:p.Arg166His | |
| ENST00000343380.5:c.497G>A | ENSP00000345571.5:p.Arg166His | |
| NM_005225.2:c.497G>A | NP_005216.1:p.Arg166His | |
| NM_005225.3:c.497G>A MANE Select | NP_005216.1:p.Arg166His |