Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22083405C>T , CM000671.2:g.22083405C>T | GRCh38 |
| NC_000009.11:g.22083404C>T , CM000671.1:g.22083404C>T | GRCh37 |
| NC_000009.10:g.22073404C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2449-12967C>T | |
| NR_047532.1:n.1076-8903C>T | |
| NR_047534.1:n.645-13853C>T | |
| NR_047535.1:n.780+27018C>T | |
| NR_047536.1:n.645-28915C>T | |
| NR_047537.1:n.780+27018C>T | |
| NR_047538.1:n.644+34177C>T | |
| NR_047543.1:n.780+27018C>T | |
| NR_120536.1:n.644+34177C>T |