Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.134148632A>G , CM000673.2:g.134148632A>G | GRCh38 |
| NC_000011.9:g.134018527A>G , CM000673.1:g.134018527A>G | GRCh37 |
| NC_000011.8:g.133523737A>G | NCBI36 |
| NG_028348.1:g.84708A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299106.9:c.798A>G MANE Select | ENSP00000299106.4:p.Ala266= | |
| ENST00000299106.8:c.798A>G | ENSP00000299106.4:p.Ala266= | |
| ENST00000441717.3:c.645A>G | ENSP00000395742.3:p.Ala215= | |
| ENST00000533711.1:n.835A>G | ||
| NM_001205329.1:c.645A>G | NP_001192258.1:p.Ala215= | |
| NM_032801.4:c.798A>G | NP_116190.3:p.Ala266= | |
| NM_032801.5:c.798A>G MANE Select | NP_116190.3:p.Ala266= | |
| NM_001205329.2:c.645A>G | NP_001192258.1:p.Ala215= |