Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59269163T>C , CM000680.2:g.59269163T>C | GRCh38 |
| NC_000018.9:g.56936395T>C , CM000680.1:g.56936395T>C | GRCh37 |
| NC_000018.8:g.55087375T>C | NCBI36 |
| NG_013031.1:g.9231A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_013435.3:c.882A>G MANE Select | NP_038463.2:p.Gln294= |
| ENST00000334889.4:c.882A>G MANE Select | ENSP00000334813.3:p.Gln294= |
| NM_013435.2:c.882A>G | NP_038463.2:p.Gln294= |
| ENST00000256852.7:c.*313A>G | ENSP00000256852.7:n.*313A>G |
| ENST00000334889.3:c.882A>G | ENSP00000334813.3:p.Gln294= |