Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610840T= , CM000668.2:g.1610840T= | GRCh38 |
| NC_000006.11:g.1611075T= , CM000668.1:g.1611075T= | GRCh37 |
| NC_000006.10:g.1556074T= | NCBI36 |
| NG_009368.1:g.5395T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645831.2:c.395T= MANE Select | ENSP00000493906.1:p.Leu132= | |
| ENST00000380874.3:c.395T= | ENSP00000370256.2:p.Leu132= | |
| NM_001453.2:c.395T= | NP_001444.2:p.Leu132= | |
| NM_001453.3:c.395T= MANE Select | NP_001444.2:p.Leu132= |