Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96160443C>T , CM000670.2:g.96160443C>T | GRCh38 |
| NC_000008.10:g.97172671C>T , CM000670.1:g.97172671C>T | GRCh37 |
| NC_000008.9:g.97241847C>T | NCBI36 |
| NG_008981.1:g.5350G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001001557.4:c.250G>A MANE Select | NP_001001557.1:p.Glu84Lys |
| ENST00000287020.7:c.250G>A MANE Select | ENSP00000287020.4:p.Glu84Lys |
| NM_001001557.2:c.250G>A | NP_001001557.1:p.Glu84Lys |
| NM_001001557.3:c.250G>A | NP_001001557.1:p.Glu84Lys |
| ENST00000287020.6:c.250G>A | ENSP00000287020.4:p.Glu84Lys |
| ENST00000620978.1:c.250G>A | ENSP00000480170.1:p.Glu84Lys |
| ENST00000621429.1:c.250G>A | ENSP00000483711.1:p.Glu84Lys |