Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19951920A= , CM000670.2:g.19951920A= | GRCh38 |
| NC_000008.10:g.19809431A= , CM000670.1:g.19809431A= | GRCh37 |
| NC_000008.9:g.19853711A= | NCBI36 |
| NG_008855.1:g.17850A= | |
| NG_008855.2:g.55204A= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.401A= MANE Select | ENSP00000497642.1:p.Asp134= | |
| ENST00000311322.8:c.401A= | ENSP00000309757.6:p.Asp134= | |
| ENST00000520959.5:c.173A= | ENSP00000428496.1:p.Asp58= | |
| NM_000237.2:c.401A= | NP_000228.1:p.Asp134= | |
| NM_000237.3:c.401A= MANE Select | NP_000228.1:p.Asp134= |