Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.16253756G>A , CM000674.2:g.16253756G>A | GRCh38 |
| NC_000012.11:g.16406690G>A , CM000674.1:g.16406690G>A | GRCh37 |
| NC_000012.10:g.16297957G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001170798.1:c.754+3945C>T MANE Select | NP_001164269.1:n.754+3945C>T |
| ENST00000344941.3:c.754+3945C>T MANE Select | ENSP00000340402.3:n.754+3945C>T |
| XR_001749028.1:n.526+8733G>A |