Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22114537A>C , CM000671.2:g.22114537A>C | GRCh38 |
| NC_000009.11:g.22114536A>C , CM000671.1:g.22114536A>C | GRCh37 |
| NC_000009.10:g.22104536A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003529.3:n.2908+738A>C | ||
| NR_047532.1:n.1697+738A>C | ||
| NR_047534.1:n.961+738A>C | ||
| NR_047535.1:n.856+2142A>C | ||
| NR_047536.1:n.720+2142A>C | ||
| NR_047537.1:n.781-5663A>C | ||
| NR_047538.1:n.645-5663A>C | ||
| NR_047543.1:n.990+738A>C | ||
| NR_120536.1:n.645-5967A>C |