Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22081851C= , CM000671.2:g.22081851C= | GRCh38 |
| NC_000009.11:g.22081850C= , CM000671.1:g.22081850C= | GRCh37 |
| NC_000009.10:g.22071850C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2449-14521C= | |
| NR_047532.1:n.1076-10457C= | |
| NR_047534.1:n.645-15407C= | |
| NR_047535.1:n.780+25464C= | |
| NR_047536.1:n.645-30469C= | |
| NR_047537.1:n.780+25464C= | |
| NR_047538.1:n.644+32623C= | |
| NR_047543.1:n.780+25464C= | |
| NR_120536.1:n.644+32623C= |