Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853750A>T , CM000685.2:g.46853750A>T | GRCh38 |
| NC_000023.10:g.46713185A>T , CM000685.1:g.46713185A>T | GRCh37 |
| NC_000023.9:g.46598129A>T | NCBI36 |
| NG_009107.1:g.21839A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218340.4:c.377A>T MANE Select | ENSP00000218340.3:p.Glu126Val | |
| ENST00000218340.3:c.377A>T | ENSP00000218340.3:p.Glu126Val | |
| NM_006915.2:c.377A>T | NP_008846.2:p.Glu126Val | |
| NM_006915.3:c.377A>T MANE Select | NP_008846.2:p.Glu126Val |