Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.185144945T= , CM000666.2:g.185144945T= | GRCh38 |
| NC_000004.11:g.186066099T= , CM000666.1:g.186066099T= | GRCh37 |
| NC_000004.10:g.186303093T= | NCBI36 |
| NG_013001.1:g.6683T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001151.4:c.293T= MANE Select | NP_001142.2:p.Leu98= |
| ENST00000281456.11:c.293T= MANE Select | ENSP00000281456.5:p.Leu98= |
| NM_001151.3:c.293T= | NP_001142.2:p.Leu98= |
| ENST00000281456.10:c.293T= | ENSP00000281456.5:p.Leu98= |
| ENST00000491736.1:c.293T= | ENSP00000476711.1:p.Leu98= |