Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.144404409G>A , CM000669.2:g.144404409G>A | GRCh38 |
| NC_000007.13:g.144101502G>A , CM000669.1:g.144101502G>A | GRCh37 |
| NC_000007.12:g.143732435G>A | NCBI36 |
| NG_028979.1:g.10819C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001080413.3:c.210+147C>T MANE Select | NP_001073882.3:n.210+147C>T |
| ENST00000467773.1:c.210+147C>T MANE Select | ENSP00000419457.1:n.210+147C>T |
| ENST00000483238.5:c.210+147C>T | ENSP00000419565.1:n.210+147C>T |
| XM_017011742.2:c.210+147C>T | XP_016867231.1:n.210+147C>T |