Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23048091G= , CM000682.2:g.23048091G= | GRCh38 |
| NC_000020.10:g.23028728G= , CM000682.1:g.23028728G= | GRCh37 |
| NC_000020.9:g.22976728G= | NCBI36 |
| NG_012027.1:g.6574C= , LRG_168:g.6574C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377103.3:c.1414C= MANE Select | ENSP00000366307.2:p.Leu472= | |
| ENST00000377103.2:c.1414C= | ENSP00000366307.2:p.Leu472= | |
| NM_000361.2:c.1414C= , LRG_168t1:c.1414C= | NP_000352.1:p.Leu472= | |
| NM_000361.3:c.1414C= MANE Select | NP_000352.1:p.Leu472= |