Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.22103342T>A , CM000671.2:g.22103342T>A | GRCh38 |
| NC_000009.11:g.22103341T>A , CM000671.1:g.22103341T>A | GRCh37 |
| NC_000009.10:g.22093341T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003529.3:n.2698+5978T>A | |
| NR_047532.1:n.1487+5978T>A | |
| NR_047534.1:n.751+5978T>A | |
| NR_047535.1:n.781-8978T>A | |
| NR_047536.1:n.645-8978T>A | |
| NR_047537.1:n.781-16858T>A | |
| NR_047538.1:n.645-16858T>A | |
| NR_047543.1:n.781-8978T>A | |
| NR_120536.1:n.645-17162T>A |