Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088225C>T , CM000671.2:g.22088225C>T | GRCh38 |
| NC_000009.11:g.22088224C>T , CM000671.1:g.22088224C>T | GRCh37 |
| NC_000009.10:g.22078224C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2449-8147C>T | ||
| NR_047532.1:n.1076-4083C>T | ||
| NR_047534.1:n.645-9033C>T | ||
| NR_047535.1:n.781-24095C>T | ||
| NR_047536.1:n.645-24095C>T | ||
| NR_047537.1:n.780+31838C>T | ||
| NR_047538.1:n.645-31975C>T | ||
| NR_047543.1:n.781-24095C>T | ||
| NR_120536.1:n.645-32279C>T |