Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49524089C= , CM000682.2:g.49524089C= | GRCh38 |
| NC_000020.10:g.48140626C= , CM000682.1:g.48140626C= | GRCh37 |
| NC_000020.9:g.47574033C= | NCBI36 |
| NG_007940.1:g.49082G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.824G= MANE Select | NP_000952.1:p.Arg275= |
| ENST00000244043.5:c.824G= MANE Select | ENSP00000244043.3:p.Arg275= |
| NM_000961.3:c.824G= | NP_000952.1:p.Arg275= |
| ENST00000244043.4:c.824G= | ENSP00000244043.3:p.Arg275= |
| ENST00000478971.1:n.645G= |