Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891386A>G , CM000673.2:g.128891386A>G | GRCh38 |
| NC_000011.9:g.128761281A>G , CM000673.1:g.128761281A>G | GRCh37 |
| NC_000011.8:g.128266491A>G | NCBI36 |
| NG_023406.2:g.4969A>G , LRG_333:g.4969A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-346A>G MANE Select | ENSP00000433295.1:n.-346A>G | |
| ENST00000529694.5:c.-346A>G | ENSP00000433295.1:n.-346A>G | |
| NM_000890.4:c.-346A>G | NP_000881.3:n.-346A>G | |
| NM_001354169.1:c.-435A>G | NP_001341098.1:n.-435A>G | |
| NM_000890.5:c.-346A>G MANE Select | NP_000881.3:n.-346A>G | |
| NM_001354169.2:c.-435A>G | NP_001341098.1:n.-435A>G |