Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6595100G= , CM000671.2:g.6595100G= | GRCh38 |
| NC_000009.11:g.6595100G= , CM000671.1:g.6595100G= | GRCh37 |
| NC_000009.10:g.6585100G= | NCBI36 |
| NG_016397.1:g.55593C= , LRG_643:g.55593C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000170.3:c.1175C= MANE Select | NP_000161.2:p.Ala392= |
| ENST00000321612.8:c.1175C= MANE Select | ENSP00000370737.4:p.Ala392= |
| NM_000170.2:c.1175C= , LRG_643t1:c.1175C= | NP_000161.2:p.Ala392= |
| ENST00000321612.6:c.1175C= | ENSP00000370737.3:p.Ala392= |
| ENST00000463305.1:n.259C= | |
| ENST00000638654.1:c.422C= | ENSP00000491101.1:p.Ala141= |
| ENST00000639364.1:n.875C= | |
| ENST00000639443.1:n.743C= | |
| ENST00000639493.1:n.327C= | |
| ENST00000639954.1:n.883C= | |
| ENST00000640592.1:n.1058C= |