Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43007204G>A , CM000677.2:g.43007204G>A | GRCh38 |
| NC_000015.9:g.43299402G>A , CM000677.1:g.43299402G>A | GRCh37 |
| NC_000015.8:g.41086694G>A | NCBI36 |
| NG_012182.1:g.103885C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.3290C>T MANE Select | NP_777576.1:p.Thr1097Met |
| ENST00000290650.9:c.3290C>T MANE Select | ENSP00000290650.4:p.Thr1097Met |
| NM_174916.2:c.3290C>T | NP_777576.1:p.Thr1097Met |
| ENST00000290650.8:c.3290C>T | ENSP00000290650.4:p.Thr1097Met |
| ENST00000568782.1:n.263C>T |