Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32088931C>T , CM000668.2:g.32088931C>T | GRCh38 |
| NC_000006.11:g.32056708C>T , CM000668.1:g.32056708C>T | GRCh37 |
| NC_000006.10:g.32164686C>T | NCBI36 |
| NG_008337.2:g.25444G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001365276.2:c.2633G>A MANE Select | NP_001352205.1:p.Gly878Asp |
| ENST00000644971.2:c.2633G>A MANE Select | ENSP00000496448.1:p.Gly878Asp |
| NM_001365276.1:c.2633G>A | NP_001352205.1:p.Gly878Asp |
| NM_019105.6:c.2633G>A | NP_061978.6:p.Gly878Asp |
| NM_019105.7:c.2633G>A | NP_061978.6:p.Gly878Asp |
| NM_019105.8:c.2633G>A | NP_061978.6:p.Gly878Asp |
| ENST00000375244.7:c.2633G>A | ENSP00000364393.3:p.Gly878Asp |
| ENST00000613214.4:c.2489G>A | ENSP00000480067.1:p.Gly830Asp |
| ENST00000647633.1:c.2633G>A | ENSP00000497649.1:p.Gly878Asp |