Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2297759G>A , CM000678.2:g.2297759G>A | GRCh38 |
| NC_000016.9:g.2347760G>A , CM000678.1:g.2347760G>A | GRCh37 |
| NC_000016.8:g.2287761G>A | NCBI36 |
| NG_011790.1:g.47988C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.2052+7C>T MANE Select | NP_001080.2:n.2052+7C>T |
| ENST00000301732.10:c.2052+7C>T MANE Select | ENSP00000301732.5:n.2052+7C>T |
| NM_001089.2:c.2052+7C>T | NP_001080.2:n.2052+7C>T |
| ENST00000301732.9:c.2052+7C>T | ENSP00000301732.5:n.2052+7C>T |
| ENST00000382381.7:c.1878+7C>T | ENSP00000371818.3:n.1878+7C>T |
| ENST00000563623.5:n.2615+7C>T |