Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269039C= , CM000668.2:g.31269039C= | GRCh38 |
| NC_000006.11:g.31236816C= , CM000668.1:g.31236816C= | GRCh37 |
| NC_000006.10:g.31344795C= | NCBI36 |
| NG_029422.2:g.8093G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.*130G= MANE Select | ENSP00000365402.5:n.*130G= | |
| ENST00000376228.9:c.*130G= | ENSP00000365402.5:n.*130G= | |
| ENST00000376237.8:c.*818G= | ENSP00000365412.4:n.*818G= | |
| ENST00000383329.7:c.*130G= | ENSP00000372819.3:n.*130G= | |
| ENST00000466892.5:n.464G= | ||
| ENST00000470363.5:n.989G= | ||
| ENST00000487245.5:n.1590G= | ||
| NM_002117.5:c.*130G= | NP_002108.4:n.*130G= | |
| NM_002117.6:c.*130G= MANE Select | NP_002108.4:n.*130G= |