Linked Data
ClinVar Variation Id:
126888
ClinVar RCV Id:
RCV000128605
dbSNP Id:
rs6140463
gnomAD v2:
20-7909166-G-A
gnomAD v3:
20-7928519-G-A
gnomAD v4:
20-7928519-G-A
PubMed:
PMID:24886237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.7928519G>A , CM000682.2:g.7928519G>A | GRCh38 |
| NC_000020.10:g.7909166G>A , CM000682.1:g.7909166G>A | GRCh37 |
| NC_000020.9:g.7857166G>A | NCBI36 |
| NG_046733.1:g.16928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378789.4:c.289+5965C>T MANE Select | ENSP00000368066.3:n.289+5965C>T | |
| ENST00000378789.3:c.289+5965C>T | ENSP00000368066.3:n.289+5965C>T | |
| NM_017545.2:c.289+5965C>T | NP_060015.1:n.289+5965C>T | |
| NM_017545.3:c.289+5965C>T MANE Select | NP_060015.1:n.289+5965C>T |