Linked Data
ClinVar Variation Id:
4882
ClinVar RCV Id:
RCV000005158
dbSNP Id:
rs74315508
ExAC:
22:20230301 G / A
gnomAD v2:
22-20230301-G-A
gnomAD v3:
22-20242778-G-A
gnomAD v4:
22-20242778-G-A
PubMed:
PMID:15532024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20242778G>A , CM000684.2:g.20242778G>A | GRCh38 |
| NC_000022.10:g.20230301G>A , CM000684.1:g.20230301G>A | GRCh37 |
| NC_000022.9:g.18610301G>A | NCBI36 |
| NG_012176.1:g.30516C>T | |
| NG_012176.2:g.30516C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000043402.8:c.355C>T MANE Select | ENSP00000043402.7:p.Arg119Trp | |
| ENST00000043402.7:c.355C>T | ENSP00000043402.7:p.Arg119Trp | |
| ENST00000416372.5:c.414C>T | ||
| ENST00000425986.1:c.612C>T | ||
| ENST00000469601.1:n.491C>T | ||
| NM_023004.5:c.355C>T | NP_075380.1:p.Arg119Trp | |
| NM_023004.6:c.355C>T MANE Select | NP_075380.1:p.Arg119Trp |