Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.33850973G>A , CM000682.2:g.33850973G>A | GRCh38 |
| NC_000020.10:g.32438779G>A , CM000682.1:g.32438779G>A | GRCh37 |
| NC_000020.9:g.31902440G>A | NCBI36 |
| NG_015820.1:g.44670G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000217402.3:c.390G>A MANE Select | ENSP00000217402.2:p.Glu130= | |
| ENST00000217402.2:c.390G>A | ENSP00000217402.2:p.Glu130= | |
| NM_176812.4:c.390G>A | NP_789782.1:p.Glu130= | |
| NM_176812.5:c.390G>A MANE Select | NP_789782.1:p.Glu130= |