Linked Data
ClinVar Variation Id:
372230
ClinVar RCV Id:
RCV000412664
dbSNP Id:
rs775156958
ExAC:
1:17708541 T / A
gnomAD v2:
1-17708541-T-A
gnomAD v4:
1-17382046-T-A
PubMed:
PMID:27545678
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17382046T>A , CM000663.2:g.17382046T>A | GRCh38 |
| NC_000001.10:g.17708541T>A , CM000663.1:g.17708541T>A | GRCh37 |
| NC_000001.9:g.17581128T>A | NCBI36 |
| NG_032943.1:g.14801T>A | |
| NG_032943.2:g.14801T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000619609.1:c.633T>A MANE Select | ENSP00000483125.1:p.His211Gln | |
| NM_207421.4:c.633T>A MANE Select | NP_997304.3:p.His211Gln |