Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59268087G>A , CM000680.2:g.59268087G>A | GRCh38 |
| NC_000018.9:g.56935319G>A , CM000680.1:g.56935319G>A | GRCh37 |
| NC_000018.8:g.55086299G>A | NCBI36 |
| NG_013031.1:g.10307C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013435.3:c.*917C>T MANE Select | NP_038463.2:n.*917C>T |
| ENST00000334889.4:c.*917C>T MANE Select | ENSP00000334813.3:n.*917C>T |
| NM_013435.2:c.*917C>T | NP_038463.2:n.*917C>T |
| ENST00000256852.7:c.*1389C>T | ENSP00000256852.7:n.*1389C>T |
| ENST00000334889.3:c.*917C>T | ENSP00000334813.3:n.*917C>T |