Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22081398G>C , CM000671.2:g.22081398G>C | GRCh38 |
| NC_000009.11:g.22081397G>C , CM000671.1:g.22081397G>C | GRCh37 |
| NC_000009.10:g.22071397G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2449-14974G>C | ||
| NR_047532.1:n.1076-10910G>C | ||
| NR_047534.1:n.645-15860G>C | ||
| NR_047535.1:n.780+25011G>C | ||
| NR_047536.1:n.645-30922G>C | ||
| NR_047537.1:n.780+25011G>C | ||
| NR_047538.1:n.644+32170G>C | ||
| NR_047543.1:n.780+25011G>C | ||
| NR_120536.1:n.644+32170G>C |