Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16135051C>T , CM000663.2:g.16135051C>T | GRCh38 |
| NC_000001.10:g.16461546C>T , CM000663.1:g.16461546C>T | GRCh37 |
| NC_000001.9:g.16334133C>T | NCBI36 |
| NG_021396.1:g.26037G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358432.8:c.1567G>A MANE Select | ENSP00000351209.5:p.Glu523Lys | |
| ENST00000358432.7:c.1567G>A | ENSP00000351209.5:p.Glu523Lys | |
| ENST00000480202.1:n.772G>A | ||
| NM_004431.3:c.1567G>A | NP_004422.2:p.Glu523Lys | |
| NM_001329090.1:c.1405G>A | NP_001316019.1:p.Glu469Lys | |
| NM_004431.4:c.1567G>A | NP_004422.2:p.Glu523Lys | |
| XM_017000537.1:c.1567G>A | XP_016856026.1:p.Glu523Lys | |
| NM_004431.5:c.1567G>A MANE Select | NP_004422.2:p.Glu523Lys | |
| NM_001329090.2:c.1405G>A | NP_001316019.1:p.Glu469Lys |