Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2283248C>T , CM000678.2:g.2283248C>T | GRCh38 |
| NC_000016.9:g.2333249C>T , CM000678.1:g.2333249C>T | GRCh37 |
| NC_000016.8:g.2273250C>T | NCBI36 |
| NG_011790.1:g.62499G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3973G>A MANE Select | NP_001080.2:p.Glu1325Lys |
| ENST00000301732.10:c.3973G>A MANE Select | ENSP00000301732.5:p.Glu1325Lys |
| NM_001089.2:c.3973G>A | NP_001080.2:p.Glu1325Lys |
| ENST00000301732.9:c.3973G>A | ENSP00000301732.5:p.Glu1325Lys |
| ENST00000382381.7:c.3799G>A | ENSP00000371818.3:p.Glu1267Lys |
| ENST00000566200.1:n.494G>A | |
| ENST00000569062.1:n.725G>A |