Linked Data
dbSNP Id:
rs987644787
gnomAD v2:
9-22081219-G-A
gnomAD v3:
9-22081220-G-A
gnomAD v4:
9-22081220-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22081220G>A , CM000671.2:g.22081220G>A | GRCh38 |
| NC_000009.11:g.22081219G>A , CM000671.1:g.22081219G>A | GRCh37 |
| NC_000009.10:g.22071219G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2448+14867G>A | ||
| NR_047532.1:n.1076-11088G>A | ||
| NR_047534.1:n.645-16038G>A | ||
| NR_047535.1:n.780+24833G>A | ||
| NR_047536.1:n.645-31100G>A | ||
| NR_047537.1:n.780+24833G>A | ||
| NR_047538.1:n.644+31992G>A | ||
| NR_047543.1:n.780+24833G>A | ||
| NR_120536.1:n.644+31992G>A |