Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.49547864A= , CM000682.2:g.49547864A= | GRCh38 |
| NC_000020.10:g.48164401A= , CM000682.1:g.48164401A= | GRCh37 |
| NC_000020.9:g.47597808A= | NCBI36 |
| NG_007940.1:g.25307T= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000961.4:c.354T= MANE Select | NP_000952.1:p.Ser118= |
| ENST00000244043.5:c.354T= MANE Select | ENSP00000244043.3:p.Ser118= |
| NM_000961.3:c.354T= | NP_000952.1:p.Ser118= |
| ENST00000244043.4:c.354T= | ENSP00000244043.3:p.Ser118= |
| ENST00000478971.1:n.198+2202T= |