Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88719692A= , CM000678.2:g.88719692A= | GRCh38 |
| NC_000016.9:g.88786100A= , CM000678.1:g.88786100A= | GRCh37 |
| NC_000016.8:g.87313601A= | NCBI36 |
| NG_042229.1:g.70529T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.6353T= MANE Select | ENSP00000301015.9:p.Leu2118= | |
| ENST00000466823.3:c.379T= | ||
| ENST00000301015.13:c.6353T= | ENSP00000301015.9:p.Leu2118= | |
| ENST00000419505.5:c.119T= | ENSP00000406358.1:p.Leu40= | |
| ENST00000466823.2:c.379T= | ||
| ENST00000495568.7:n.594T= | ||
| ENST00000497793.2:n.508T= | ||
| NM_001142864.2:c.6353T= | NP_001136336.2:p.Leu2118= | |
| NM_001142864.3:c.6353T= | NP_001136336.2:p.Leu2118= | |
| NM_001142864.4:c.6353T= MANE Select | NP_001136336.2:p.Leu2118= |