Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50937801G= , CM000676.2:g.50937801G= | GRCh38 |
| NC_000014.8:g.51404519G= , CM000676.1:g.51404519G= | GRCh37 |
| NC_000014.7:g.50474269G= | NCBI36 |
| NG_012796.1:g.11730C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002863.5:c.280C= MANE Select | NP_002854.3:p.Arg94= |
| ENST00000216392.8:c.280C= MANE Select | ENSP00000216392.7:p.Arg94= |
| NM_001163940.1:c.244-2616C= | NP_001157412.1:n.244-2616C= |
| NM_001163940.2:c.244-2616C= | NP_001157412.1:n.244-2616C= |
| NM_002863.4:c.280C= | NP_002854.3:p.Arg94= |
| ENST00000216392.7:c.280C= | ENSP00000216392.7:p.Arg94= |
| ENST00000530336.2:n.347C= | |
| ENST00000532462.5:c.280C= | ENSP00000431657.1:p.Arg94= |
| ENST00000544180.6:c.244-2616C= | ENSP00000443787.1:n.244-2616C= |