Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088271A>T , CM000671.2:g.22088271A>T | GRCh38 |
| NC_000009.11:g.22088270A>T , CM000671.1:g.22088270A>T | GRCh37 |
| NC_000009.10:g.22078270A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-8101A>T | ||
| NR_047532.1:n.1076-4037A>T | ||
| NR_047534.1:n.645-8987A>T | ||
| NR_047535.1:n.781-24049A>T | ||
| NR_047536.1:n.645-24049A>T | ||
| NR_047537.1:n.780+31884A>T | ||
| NR_047538.1:n.645-31929A>T | ||
| NR_047543.1:n.781-24049A>T | ||
| NR_120536.1:n.645-32233A>T |