Linked Data
dbSNP Id:
rs1391511
gnomAD v2:
10-4719796-A-G
gnomAD v3:
10-4677604-A-G
gnomAD v4:
10-4677604-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.4677604A>G , CM000672.2:g.4677604A>G | GRCh38 |
| NC_000010.10:g.4719796A>G , CM000672.1:g.4719796A>G | GRCh37 |
| NC_000010.9:g.4709796A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_024475.1:n.22+445T>C | ||
| XR_930595.1:n.1911+785A>G | ||
| XR_930596.1:n.1900+785A>G | ||
| XR_001747338.1:n.1911+785A>G |