Linked Data
dbSNP Id:
rs992240007
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088194A>G , CM000671.2:g.22088194A>G | GRCh38 |
| NC_000009.11:g.22088193A>G , CM000671.1:g.22088193A>G | GRCh37 |
| NC_000009.10:g.22078193A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2449-8178A>G | ||
| NR_047532.1:n.1076-4114A>G | ||
| NR_047534.1:n.645-9064A>G | ||
| NR_047535.1:n.781-24126A>G | ||
| NR_047536.1:n.645-24126A>G | ||
| NR_047537.1:n.780+31807A>G | ||
| NR_047538.1:n.645-32006A>G | ||
| NR_047543.1:n.781-24126A>G | ||
| NR_120536.1:n.645-32310A>G |