Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.10764428G>A , CM000673.2:g.10764428G>A | GRCh38 |
| NC_000011.9:g.10785975G>A , CM000673.1:g.10785975G>A | GRCh37 |
| NC_000011.8:g.10742551G>A | NCBI36 |
| NG_051671.1:g.18442G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014633.5:c.1405G>A MANE Select | NP_055448.1:p.Glu469Lys |
| ENST00000361367.7:c.1405G>A MANE Select | ENSP00000355013.2:p.Glu469Lys |
| NM_001346279.1:c.1405G>A | NP_001333208.1:p.Glu469Lys |
| NM_001346279.2:c.1405G>A | NP_001333208.1:p.Glu469Lys |
| NM_014633.4:c.1405G>A | NP_055448.1:p.Glu469Lys |
| ENST00000361367.6:c.1405G>A | ENSP00000355013.2:p.Glu469Lys |