Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2283237C>A , CM000678.2:g.2283237C>A | GRCh38 |
| NC_000016.9:g.2333238C>A , CM000678.1:g.2333238C>A | GRCh37 |
| NC_000016.8:g.2273239C>A | NCBI36 |
| NG_011790.1:g.62510G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.3984G>T MANE Select | NP_001080.2:p.Leu1328= |
| ENST00000301732.10:c.3984G>T MANE Select | ENSP00000301732.5:p.Leu1328= |
| NM_001089.2:c.3984G>T | NP_001080.2:p.Leu1328= |
| ENST00000301732.9:c.3984G>T | ENSP00000301732.5:p.Leu1328= |
| ENST00000382381.7:c.3810G>T | ENSP00000371818.3:p.Leu1270= |
| ENST00000566200.1:n.505G>T | |
| ENST00000569062.1:n.736G>T |