Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.21562901G>A , CM000684.2:g.21562901G>A | GRCh38 |
| NC_000022.10:g.21917190G>A , CM000684.1:g.21917190G>A | GRCh37 |
| NC_000022.9:g.20247190G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001256355.1:c.201+13251G>A | NP_001243284.1:n.201+13251G>A |
| ENST00000458578.6:c.201+13251G>A | ENSP00000400906.2:n.201+13251G>A |