Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424114A= , CM000676.2:g.23424114A= | GRCh38 |
| NC_000014.8:g.23893323A= , CM000676.1:g.23893323A= | GRCh37 |
| NC_000014.7:g.22963163A= | NCBI36 |
| NG_007884.1:g.16548T= , LRG_384:g.16548T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2715T= MANE Select | ENSP00000347507.3:p.Cys905= | |
| ENST00000355349.3:c.2715T= | ENSP00000347507.3:p.Cys905= | |
| NM_000257.3:c.2715T= | NP_000248.2:p.Cys905= | |
| XR_245686.3:n.2821T= | ||
| XM_017021340.1:c.2715T= | XP_016876829.1:p.Cys905= | |
| NM_000257.4:c.2715T= MANE Select | NP_000248.2:p.Cys905= |