Linked Data
dbSNP Id:
rs12170325
gnomAD v2:
22-46502870-C-T
gnomAD v3:
22-46106990-C-T
gnomAD v4:
22-46106990-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.46106990C>T , CM000684.2:g.46106990C>T | GRCh38 |
| NC_000022.10:g.46502870C>T , CM000684.1:g.46502870C>T | GRCh37 |
| NC_000022.9:g.44881534C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_027033.2:n.373-2277C>T | ||
| NR_110479.1:n.315-2277C>T |