Linked Data
ClinVar Variation Id:
224839
ClinVar RCV Id:
RCV000210427
dbSNP Id:
rs869320629
PubMed:
PMID:26749309
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18057941A>G , CM000682.2:g.18057941A>G | GRCh38 |
| NC_000020.10:g.18038585A>G , CM000682.1:g.18038585A>G | GRCh37 |
| NC_000020.9:g.17986585A>G | NCBI36 |
| NG_046859.1:g.6248T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000483661.5:n.161+949T>C | ||
| ENST00000486776.5:n.109+1139T>C | ||
| ENST00000494030.1:n.109+1139T>C | ||
| NM_001303461.1:c.-297+949T>C | NP_001290390.1:n.-297+949T>C | |
| NM_001303462.1:c.-76+1139T>C | NP_001290391.1:n.-76+1139T>C |