Linked Data
dbSNP Id:
rs1005802949
gnomAD v2:
9-22088229-G-A
gnomAD v3:
9-22088230-G-A
gnomAD v4:
9-22088230-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088230G>A , CM000671.2:g.22088230G>A | GRCh38 |
| NC_000009.11:g.22088229G>A , CM000671.1:g.22088229G>A | GRCh37 |
| NC_000009.10:g.22078229G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2449-8142G>A | ||
| NR_047532.1:n.1076-4078G>A | ||
| NR_047534.1:n.645-9028G>A | ||
| NR_047535.1:n.781-24090G>A | ||
| NR_047536.1:n.645-24090G>A | ||
| NR_047537.1:n.780+31843G>A | ||
| NR_047538.1:n.645-31970G>A | ||
| NR_047543.1:n.781-24090G>A | ||
| NR_120536.1:n.645-32274G>A |