Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.2433879C>T , CM000681.2:g.2433879C>T | GRCh38 |
| NC_000019.9:g.2433877C>T , CM000681.1:g.2433877C>T | GRCh37 |
| NC_000019.8:g.2384877C>T | NCBI36 |
| NG_008355.1:g.28082G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032737.4:c.1429G>A MANE Select | NP_116126.3:p.Glu477Lys |
| ENST00000325327.4:c.1429G>A MANE Select | ENSP00000327054.3:p.Glu477Lys |
| NM_032737.3:c.1429G>A | NP_116126.3:p.Glu477Lys |
| ENST00000325327.3:c.1429G>A | ENSP00000327054.3:p.Glu477Lys |
| ENST00000490554.5:n.620G>A | |
| ENST00000532465.1:n.21G>A | |
| XM_011528378.1:c.1429G>A | XP_011526680.1:p.Glu477Lys |
| XM_011528379.1:c.1081G>A | XP_011526681.1:p.Glu361Lys |