Linked Data
ClinVar Variation Id:
8910
ClinVar RCV Id:
RCV000009465
dbSNP Id:
rs2488457
gnomAD v2:
1-114415368-G-C
gnomAD v3:
1-113872746-G-C
gnomAD v4:
1-113872746-G-C
PubMed:
PMID:16470599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.113872746G>C , CM000663.2:g.113872746G>C | GRCh38 |
| NC_000001.10:g.114415368G>C , CM000663.1:g.114415368G>C | GRCh37 |
| NC_000001.9:g.114216891G>C | NCBI36 |
| NG_011432.1:g.4008C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_037864.1:n.246+14730G>C | ||
| NR_125965.1:n.415-25122G>C |