Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951859C= , CM000670.2:g.19951859C= | GRCh38 |
| NC_000008.10:g.19809370C= , CM000670.1:g.19809370C= | GRCh37 |
| NC_000008.9:g.19853650C= | NCBI36 |
| NG_008855.1:g.17789C= | |
| NG_008855.2:g.55143C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.340C= MANE Select | ENSP00000497642.1:p.Leu114= | |
| ENST00000311322.8:c.340C= | ENSP00000309757.6:p.Leu114= | |
| ENST00000520959.5:c.112C= | ENSP00000428496.1:p.Leu38= | |
| ENST00000524029.5:c.340C= | ENSP00000428237.1:p.Leu114= | |
| NM_000237.2:c.340C= | NP_000228.1:p.Leu114= | |
| NM_000237.3:c.340C= MANE Select | NP_000228.1:p.Leu114= |