Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088183A>G , CM000671.2:g.22088183A>G | GRCh38 |
| NC_000009.11:g.22088182A>G , CM000671.1:g.22088182A>G | GRCh37 |
| NC_000009.10:g.22078182A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2449-8189A>G | ||
| NR_047532.1:n.1076-4125A>G | ||
| NR_047534.1:n.645-9075A>G | ||
| NR_047535.1:n.781-24137A>G | ||
| NR_047536.1:n.645-24137A>G | ||
| NR_047537.1:n.780+31796A>G | ||
| NR_047538.1:n.645-32017A>G | ||
| NR_047543.1:n.781-24137A>G | ||
| NR_120536.1:n.645-32321A>G |