Linked Data
dbSNP Id:
rs1407293512
gnomAD v2:
17-47440366-G-A
gnomAD v3:
17-49363004-G-A
gnomAD v4:
17-49363004-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363004G>A , CM000679.2:g.49363004G>A | GRCh38 |
| NC_000017.10:g.47440366G>A , CM000679.1:g.47440366G>A | GRCh37 |
| NC_000017.9:g.44795365G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110882.1:n.136+487G>A | ||
| NR_110883.1:n.31-1275G>A | ||
| NR_110884.1:n.58-1275G>A |