Linked Data
ClinVar Variation Id:
5221
dbSNP Id:
rs288326
ExAC:
2:183703336 G / A
gnomAD v2:
2-183703336-G-A
gnomAD v3:
2-182838608-G-A
gnomAD v4:
2-182838608-G-A
PubMed:
PMID:15210948
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.182838608G>A , CM000664.2:g.182838608G>A | GRCh38 |
| NC_000002.11:g.183703336G>A , CM000664.1:g.183703336G>A | GRCh37 |
| NC_000002.10:g.183411581G>A | NCBI36 |
| NG_017197.1:g.33163C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295113.5:c.598C>T MANE Select | ENSP00000295113.4:p.Arg200Trp | |
| ENST00000295113.4:c.598C>T | ENSP00000295113.4:p.Arg200Trp | |
| NM_001463.3:c.598C>T | NP_001454.2:p.Arg200Trp | |
| NM_001463.4:c.598C>T MANE Select | NP_001454.2:p.Arg200Trp |