Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2284336C>A , CM000678.2:g.2284336C>A | GRCh38 |
| NC_000016.9:g.2334337C>A , CM000678.1:g.2334337C>A | GRCh37 |
| NC_000016.8:g.2274338C>A | NCBI36 |
| NG_011790.1:g.61411G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3805G>T MANE Select | NP_001080.2:p.Glu1269Ter |
| ENST00000301732.10:c.3805G>T MANE Select | ENSP00000301732.5:p.Glu1269Ter |
| NM_001089.2:c.3805G>T | NP_001080.2:p.Glu1269Ter |
| ENST00000301732.9:c.3805G>T | ENSP00000301732.5:p.Glu1269Ter |
| ENST00000382381.7:c.3631G>T | ENSP00000371818.3:p.Glu1211Ter |