Linked Data
dbSNP Id:
rs17651189
gnomAD v2:
22-24844883-T-C
gnomAD v3:
22-24448915-T-C
gnomAD v4:
22-24448915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.24448915T>C , CM000684.2:g.24448915T>C | GRCh38 |
| NC_000022.10:g.24844883T>C , CM000684.1:g.24844883T>C | GRCh37 |
| NC_000022.9:g.23174883T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_028483.2:n.1121+3296A>G | ||
| NR_028484.2:n.685-6775A>G | ||
| NR_028484.3:n.685-6775A>G |