Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.3110150C>T , CM000681.2:g.3110150C>T | GRCh38 |
| NC_000019.9:g.3110148C>T , CM000681.1:g.3110148C>T | GRCh37 |
| NC_000019.8:g.3061148C>T | NCBI36 |
| NG_033852.2:g.20741C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002067.5:c.138C>T MANE Select | NP_002058.2:p.Gly46= |
| ENST00000078429.9:c.138C>T MANE Select | ENSP00000078429.3:p.Gly46= |
| NM_002067.4:c.138C>T | NP_002058.2:p.Gly46= |
| ENST00000078429.8:c.138C>T | ENSP00000078429.3:p.Gly46= |
| ENST00000586763.1:n.140-3180C>T |