Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.77463564T>A , CM000668.2:g.77463564T>A | GRCh38 |
| NC_000006.11:g.78173281T>A , CM000668.1:g.78173281T>A | GRCh37 |
| NC_000006.10:g.78230000T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000863.2:c.-161A>T | NP_000854.1:n.-161A>T |
| XR_942706.1:n.545-10962T>A | |
| XR_942707.1:n.545-10962T>A | |
| XR_942708.1:n.545-10962T>A | |
| XR_942708.2:n.545-10962T>A | |
| XR_942709.1:n.545-10962T>A |