Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134148753T>G , CM000673.2:g.134148753T>G | GRCh38 |
| NC_000011.9:g.134018648T>G , CM000673.1:g.134018648T>G | GRCh37 |
| NC_000011.8:g.133523858T>G | NCBI36 |
| NG_028348.1:g.84829T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032801.5:c.843-11T>G MANE Select | NP_116190.3:n.843-11T>G |
| ENST00000299106.9:c.843-11T>G MANE Select | ENSP00000299106.4:n.843-11T>G |
| NM_001205329.1:c.690-11T>G | NP_001192258.1:n.690-11T>G |
| NM_001205329.2:c.690-11T>G | NP_001192258.1:n.690-11T>G |
| NM_032801.4:c.843-11T>G | NP_116190.3:n.843-11T>G |
| ENST00000299106.8:c.843-11T>G | ENSP00000299106.4:n.843-11T>G |
| ENST00000441717.3:c.690-11T>G | ENSP00000395742.3:n.690-11T>G |
| ENST00000533711.1:n.880-11T>G |