Linked Data
ClinVar Variation Id:
1236601
ClinVar RCV Id:
RCV001639116
dbSNP Id:
rs494379
gnomAD v2:
11-102669210-A-G
gnomAD v3:
11-102798479-A-G
gnomAD v4:
11-102798479-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798479A>G , CM000673.2:g.102798479A>G | GRCh38 |
| NC_000011.9:g.102669210A>G , CM000673.1:g.102669210A>G | GRCh37 |
| NC_000011.8:g.102174420A>G | NCBI36 |
| NG_011740.1:g.4757T>C | |
| NG_011740.2:g.4757T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371455.7:n.423+357A>G | ||
| ENST00000525739.6:n.682+357A>G | ||
| ENST00000544704.1:n.443+357A>G | ||
| NR_038390.1:n.682+357A>G |