Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114418A>C , CM000671.2:g.22114418A>C | GRCh38 |
| NC_000009.11:g.22114417A>C , CM000671.1:g.22114417A>C | GRCh37 |
| NC_000009.10:g.22104417A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+619A>C | ||
| NR_047532.1:n.1697+619A>C | ||
| NR_047534.1:n.961+619A>C | ||
| NR_047535.1:n.856+2023A>C | ||
| NR_047536.1:n.720+2023A>C | ||
| NR_047537.1:n.781-5782A>C | ||
| NR_047538.1:n.645-5782A>C | ||
| NR_047543.1:n.990+619A>C | ||
| NR_120536.1:n.645-6086A>C |