Linked Data
ClinVar Variation Id:
8824
ClinVar RCV Id:
RCV000009372
dbSNP Id:
rs137853342
PubMed:
PMID:7550319
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23215237G>A , CM000678.2:g.23215237G>A | GRCh38 |
| NC_000016.9:g.23226558G>A , CM000678.1:g.23226558G>A | GRCh37 |
| NC_000016.8:g.23134059G>A | NCBI36 |
| NG_011909.1:g.37519G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000300061.3:c.1718G>A MANE Select | ENSP00000300061.2:p.Trp573Ter | |
| ENST00000300061.2:c.1718G>A | ENSP00000300061.2:p.Trp573Ter | |
| NM_001039.3:c.1718G>A | NP_001030.2:p.Trp573Ter | |
| NM_001039.4:c.1718G>A MANE Select | NP_001030.2:p.Trp573Ter |