Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59272465G= , CM000680.2:g.59272465G= | GRCh38 |
| NC_000018.9:g.56939697G= , CM000680.1:g.56939697G= | GRCh37 |
| NC_000018.8:g.55090677G= | NCBI36 |
| NG_013031.1:g.5929C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013435.3:c.439C= MANE Select | NP_038463.2:p.Gln147= |
| ENST00000334889.4:c.439C= MANE Select | ENSP00000334813.3:p.Gln147= |
| NM_013435.2:c.439C= | NP_038463.2:p.Gln147= |
| ENST00000256852.7:c.289+453C= | ENSP00000256852.7:n.289+453C= |
| ENST00000334889.3:c.439C= | ENSP00000334813.3:p.Gln147= |
| ENST00000591550.1:n.456C= |