Linked Data
ClinVar Variation Id:
161819
ClinVar RCV Id:
RCV000149355
dbSNP Id:
rs193920820
gnomAD v4:
22-38427547-G-A
COSMIC:
COSM1179637
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.38427547G>A , CM000684.2:g.38427547G>A | GRCh38 |
| NC_000022.10:g.38823552G>A , CM000684.1:g.38823552G>A | GRCh37 |
| NC_000022.9:g.37153498G>A | NCBI36 |
| NG_050625.1:g.32653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303592.3:c.586C>T MANE Select | ENSP00000306497.3:p.Arg196Cys | |
| NM_004981.1:c.586C>T | NP_004972.1:p.Arg196Cys | |
| NM_152868.2:c.586C>T | NP_690607.1:p.Arg196Cys | |
| XR_938252.1:n.309+2575G>A | ||
| XR_938252.2:n.313+2575G>A | ||
| NM_152868.3:c.586C>T MANE Select | NP_690607.1:p.Arg196Cys | |
| NM_004981.2:c.586C>T | NP_004972.1:p.Arg196Cys |