Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148827182C= , CM000667.2:g.148827182C= | GRCh38 |
| NC_000005.9:g.148206745C= , CM000667.1:g.148206745C= | GRCh37 |
| NC_000005.8:g.148186938C= | NCBI36 |
| NG_016421.1:g.5590C= | |
| NG_016421.2:g.5590C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305988.6:c.351C= MANE Select | ENSP00000305372.4:p.Val117= | |
| ENST00000305988.5:c.351C= | ENSP00000305372.4:p.Val117= | |
| NM_000024.5:c.351C= | NP_000015.1:p.Val117= | |
| NM_000024.6:c.351C= MANE Select | NP_000015.2:p.Val117= |