Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.31820133A= , CM000682.2:g.31820133A= | GRCh38 |
| NC_000020.10:g.30407936A= , CM000682.1:g.30407936A= | GRCh37 |
| NC_000020.9:g.29871597A= | NCBI36 |
| NG_012847.1:g.5759A= , LRG_392:g.5759A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375985.5:c.60A= MANE Select | ENSP00000365152.4:p.Ala20= | |
| ENST00000375985.4:c.60A= | ENSP00000365152.4:p.Ala20= | |
| ENST00000375994.6:c.60A= | ENSP00000365162.2:p.Ala20= | |
| NM_033118.3:c.60A= , LRG_392t1:c.60A= | NP_149109.1:p.Ala20= | |
| XR_244155.1:n.225A= | ||
| NM_033118.4:c.60A= MANE Select | NP_149109.1:p.Ala20= |