Linked Data
dbSNP Id:
rs931506416
gnomAD v2:
22-46504409-G-A
gnomAD v3:
22-46108529-G-A
gnomAD v4:
22-46108529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46108529G>A , CM000684.2:g.46108529G>A | GRCh38 |
| NC_000022.10:g.46504409G>A , CM000684.1:g.46504409G>A | GRCh37 |
| NC_000022.9:g.44883073G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_027033.2:n.373-738G>A | ||
| NR_110479.1:n.315-738G>A |