Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44351759C= , CM000679.2:g.44351759C= | GRCh38 |
| NC_000017.10:g.42429127C= , CM000679.1:g.42429127C= | GRCh37 |
| NC_000017.9:g.39784653C= | NCBI36 |
| NG_007886.1:g.11637C= , LRG_661:g.11637C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000053867.8:c.1143C= MANE Select | ENSP00000053867.2:p.Leu381= | |
| ENST00000639447.1:c.1136+7C= | ENSP00000492014.1:n.1136+7C= | |
| ENST00000053867.7:c.1143C= | ENSP00000053867.2:p.Leu381= | |
| ENST00000586443.1:c.584C= | ||
| ENST00000589265.5:c.672C= | ENSP00000467616.1:p.Leu224= | |
| ENST00000589923.1:n.401C= | ||
| NM_002087.3:c.1143C= | NP_002078.1:p.Leu381= | |
| XM_005257253.1:c.1143C= | XP_005257310.1:p.Leu381= | |
| XM_024450730.1:c.1143C= | XP_024306498.1:p.Leu381= | |
| NM_002087.4:c.1143C= MANE Select | NP_002078.1:p.Leu381= |