Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22119196T>C , CM000671.2:g.22119196T>C | GRCh38 |
| NC_000009.11:g.22119195T>C , CM000671.1:g.22119195T>C | GRCh37 |
| NC_000009.10:g.22109195T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.3032+429T>C | ||
| NR_047532.1:n.1821+429T>C | ||
| NR_047534.1:n.1085+429T>C | ||
| NR_047535.1:n.980+429T>C | ||
| NR_047536.1:n.844+429T>C | ||
| NR_047537.1:n.781-1004T>C | ||
| NR_047538.1:n.645-1004T>C | ||
| NR_047543.1:n.1114+429T>C | ||
| NR_120536.1:n.645-1308T>C |