Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22100177G= , CM000671.2:g.22100177G= | GRCh38 |
| NC_000009.11:g.22100176G= , CM000671.1:g.22100176G= | GRCh37 |
| NC_000009.10:g.22090176G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2698+2813G= | |
| NR_047532.1:n.1487+2813G= | |
| NR_047534.1:n.751+2813G= | |
| NR_047535.1:n.781-12143G= | |
| NR_047536.1:n.645-12143G= | |
| NR_047537.1:n.781-20023G= | |
| NR_047538.1:n.645-20023G= | |
| NR_047543.1:n.781-12143G= | |
| NR_120536.1:n.645-20327G= |