Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133532171G= , CM000672.2:g.133532171G= | GRCh38 |
| NC_000010.10:g.135345675G= , CM000672.1:g.135345675G= | GRCh37 |
| NC_000010.9:g.135195665G= | NCBI36 |
| NG_008383.1:g.9809G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000773.4:c.535G= MANE Select | NP_000764.1:p.Val179= |
| ENST00000252945.8:c.535G= MANE Select | ENSP00000252945.3:p.Val179= |
| NM_000773.3:c.535G= | NP_000764.1:p.Val179= |
| ENST00000252945.7:c.535G= | ENSP00000252945.3:p.Val179= |
| ENST00000368520.1:n.596G= | |
| ENST00000418356.1:c.124G= | ENSP00000397299.1:p.Val42= |
| ENST00000421586.5:c.274G= | ENSP00000412754.1:p.Val92= |
| ENST00000463117.6:c.535G= | ENSP00000440689.1:p.Val179= |
| ENST00000477500.5:n.448+437G= | |
| ENST00000541080.5:c.226+437G= |