Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2831796T>A , CM000678.2:g.2831796T>A | GRCh38 |
| NC_000016.9:g.2881797T>A , CM000678.1:g.2881797T>A | GRCh37 |
| NC_000016.8:g.2821798T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_145252.3:c.156T>A MANE Select | NP_660295.3:p.Ser52Arg |
| ENST00000382280.8:c.156T>A MANE Select | ENSP00000371715.4:p.Ser52Arg |
| NM_145252.2:c.264T>A | NP_660295.2:p.Ser88Arg |
| ENST00000382280.7:c.264T>A | ENSP00000371715.3:p.Ser88Arg |
| ENST00000570670.5:c.258+1000T>A | |
| ENST00000570670.6:c.155+1000T>A | ENSP00000460793.2:n.155+1000T>A |
| ENST00000572863.1:c.174T>A | ENSP00000461740.1:p.Ser58Arg |
| ENST00000572863.2:c.156T>A | ENSP00000461740.2:p.Ser52Arg |
| ENST00000573019.1:n.408T>A |