Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118433T= , CM000682.2:g.44118433T= | GRCh38 |
| NC_000020.10:g.42747073T= , CM000682.1:g.42747073T= | GRCh37 |
| NC_000020.9:g.42180487T= | NCBI36 |
| NG_031867.1:g.74146A= , LRG_394:g.74146A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020433.5:c.1288+72A= MANE Select | NP_065166.2:n.1288+72A= |
| ENST00000372980.4:c.1288+72A= MANE Select | ENSP00000362071.3:n.1288+72A= |
| NM_020433.4:c.1288+72A= , LRG_394t1:c.1288+72A= | NP_065166.2:n.1288+72A= |
| ENST00000372980.3:c.1288+72A= | ENSP00000362071.3:n.1288+72A= |
| XM_006723832.2:c.1288+72A= | XP_006723895.1:n.1288+72A= |