Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048096G= , CM000682.2:g.23048096G= | GRCh38 |
| NC_000020.10:g.23028733G= , CM000682.1:g.23028733G= | GRCh37 |
| NC_000020.9:g.22976733G= | NCBI36 |
| NG_012027.1:g.6569C= , LRG_168:g.6569C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1409C= MANE Select | ENSP00000366307.2:p.Ser470= | |
| ENST00000377103.2:c.1409C= | ENSP00000366307.2:p.Ser470= | |
| NM_000361.2:c.1409C= , LRG_168t1:c.1409C= | NP_000352.1:p.Ser470= | |
| NM_000361.3:c.1409C= MANE Select | NP_000352.1:p.Ser470= |