Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088065T>C , CM000671.2:g.22088065T>C | GRCh38 |
| NC_000009.11:g.22088064T>C , CM000671.1:g.22088064T>C | GRCh37 |
| NC_000009.10:g.22078064T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-8307T>C | ||
| NR_047532.1:n.1076-4243T>C | ||
| NR_047534.1:n.645-9193T>C | ||
| NR_047535.1:n.781-24255T>C | ||
| NR_047536.1:n.645-24255T>C | ||
| NR_047537.1:n.780+31678T>C | ||
| NR_047538.1:n.645-32135T>C | ||
| NR_047543.1:n.781-24255T>C | ||
| NR_120536.1:n.645-32439T>C |