Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133534223A>G , CM000672.2:g.133534223A>G | GRCh38 |
| NC_000010.10:g.135347727A>G , CM000672.1:g.135347727A>G | GRCh37 |
| NC_000010.9:g.135197717A>G | NCBI36 |
| NG_008383.1:g.11861A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000773.4:c.967+326A>G MANE Select | NP_000764.1:n.967+326A>G |
| ENST00000252945.8:c.967+326A>G MANE Select | ENSP00000252945.3:n.967+326A>G |
| NM_000773.3:c.967+326A>G | NP_000764.1:n.967+326A>G |
| ENST00000252945.7:c.967+326A>G | ENSP00000252945.3:n.967+326A>G |
| ENST00000368520.1:n.1028+326A>G | |
| ENST00000418356.1:c.556+326A>G | ENSP00000397299.1:n.556+326A>G |
| ENST00000421586.5:c.706+326A>G | ENSP00000412754.1:n.706+326A>G |
| ENST00000463117.6:c.967+326A>G | ENSP00000440689.1:n.967+326A>G |
| ENST00000541080.5:c.383+1355A>G |