Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22088229C= , CM000671.2:g.22088229C= | GRCh38 |
| NC_000009.11:g.22088228C= , CM000671.1:g.22088228C= | GRCh37 |
| NC_000009.10:g.22078228C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_003529.3:n.2449-8143C= | ||
| NR_047532.1:n.1076-4079C= | ||
| NR_047534.1:n.645-9029C= | ||
| NR_047535.1:n.781-24091C= | ||
| NR_047536.1:n.645-24091C= | ||
| NR_047537.1:n.780+31842C= | ||
| NR_047538.1:n.645-31971C= | ||
| NR_047543.1:n.781-24091C= | ||
| NR_120536.1:n.645-32275C= |