Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670272A>C , CM000666.2:g.68670272A>C | GRCh38 |
| NC_000004.11:g.69535990A>C , CM000666.1:g.69535990A>C | GRCh37 |
| NC_000004.10:g.69218585A>C | NCBI36 |
| NG_052676.1:g.5505T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000338206.6:c.347T>G MANE Select | ENSP00000341045.5:p.Leu116Trp | |
| ENST00000338206.5:c.347T>G | ENSP00000341045.5:p.Leu116Trp | |
| ENST00000616841.4:c.347T>G | ENSP00000482004.1:p.Leu116Trp | |
| NM_001076.3:c.347T>G | NP_001067.2:p.Leu116Trp | |
| NM_001076.4:c.347T>G MANE Select | NP_001067.2:p.Leu116Trp |