Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.70479619T>A , CM000671.2:g.70479619T>A | GRCh38 |
| NC_000009.11:g.73094535T>A , CM000671.1:g.73094535T>A | GRCh37 |
| NC_000009.10:g.72284355T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001746707.2:n.908-15015T>A | |
| XR_001746708.2:n.908-15015T>A | |
| XR_001746709.2:n.907+16764T>A | |
| XR_001746710.2:n.907+16764T>A | |
| XR_001746712.1:n.818+16764T>A | |
| XR_001746713.1:n.255+16764T>A | |
| XR_001746714.1:n.193+16764T>A | |
| XR_001746715.2:n.213+16764T>A | |
| XR_002956886.1:n.907+16764T>A | |
| XR_002956887.1:n.908-15015T>A | |
| XR_929914.1:n.388+16764T>A |