Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133538801A= , CM000672.2:g.133538801A= | GRCh38 |
| NC_000010.10:g.135352305A= , CM000672.1:g.135352305A= | GRCh37 |
| NC_000010.9:g.135202295A= | NCBI36 |
| NG_008383.1:g.16439A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252945.8:c.1319A= MANE Select | ENSP00000252945.3:p.Glu440= | |
| ENST00000252945.7:c.1319A= | ENSP00000252945.3:p.Glu440= | |
| ENST00000368520.1:n.1358+909A= | ||
| ENST00000418356.1:c.908A= | ENSP00000397299.1:p.Glu303= | |
| ENST00000421586.5:c.1058A= | ENSP00000412754.1:p.Glu353= | |
| ENST00000463117.6:c.1319A= | ENSP00000440689.1:p.Glu440= | |
| ENST00000469258.1:n.415A= | ||
| ENST00000541080.5:c.735A= | ||
| NM_000773.3:c.1319A= | NP_000764.1:p.Glu440= | |
| NM_000773.4:c.1319A= MANE Select | NP_000764.1:p.Glu440= |