Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.56248749C= , CM000682.2:g.56248749C= | GRCh38 |
| NC_000020.10:g.54823805C= , CM000682.1:g.54823805C= | GRCh37 |
| NC_000020.9:g.54257212C= | NCBI36 |
| NG_012200.1:g.5018C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_019888.3:c.-95C= MANE Select | NP_063941.3:n.-95C= |
| ENST00000243911.2:c.-95C= MANE Select | ENSP00000243911.2:n.-95C= |