Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.1610833C= , CM000668.2:g.1610833C= | GRCh38 |
| NC_000006.11:g.1611068C= , CM000668.1:g.1611068C= | GRCh37 |
| NC_000006.10:g.1556067C= | NCBI36 |
| NG_009368.1:g.5388C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001453.3:c.388C= MANE Select | NP_001444.2:p.Leu130= |
| ENST00000645831.2:c.388C= MANE Select | ENSP00000493906.1:p.Leu130= |
| NM_001453.2:c.388C= | NP_001444.2:p.Leu130= |
| ENST00000380874.3:c.388C= | ENSP00000370256.2:p.Leu130= |