Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2289430T>A , CM000678.2:g.2289430T>A | GRCh38 |
| NC_000016.9:g.2339431T>A , CM000678.1:g.2339431T>A | GRCh37 |
| NC_000016.8:g.2279432T>A | NCBI36 |
| NG_011790.1:g.56317A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301732.10:c.2700+4A>T MANE Select | ENSP00000301732.5:n.2700+4A>T | |
| ENST00000301732.9:c.2700+4A>T | ENSP00000301732.5:n.2700+4A>T | |
| ENST00000382381.7:c.2526+4A>T | ENSP00000371818.3:n.2526+4A>T | |
| ENST00000563623.5:n.3267A>T | ||
| NM_001089.2:c.2700+4A>T | NP_001080.2:n.2700+4A>T | |
| NM_001089.3:c.2700+4A>T MANE Select | NP_001080.2:n.2700+4A>T |