Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269076G= , CM000668.2:g.31269076G= | GRCh38 |
| NC_000006.11:g.31236853G= , CM000668.1:g.31236853G= | GRCh37 |
| NC_000006.10:g.31344832G= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002117.6:c.*93C= MANE Select | NP_002108.4:n.*93C= |
| ENST00000376228.10:c.*93C= MANE Select | ENSP00000365402.5:n.*93C= |
| NM_002117.5:c.*93C= | NP_002108.4:n.*93C= |
| ENST00000376228.9:c.*93C= | ENSP00000365402.5:n.*93C= |
| ENST00000376237.8:c.*781C= | ENSP00000365412.4:n.*781C= |
| ENST00000383329.7:c.*93C= | ENSP00000372819.3:n.*93C= |
| ENST00000466892.5:n.427C= | |
| ENST00000470363.5:n.952C= | |
| ENST00000487245.5:n.1553C= |