gnomAD v4:
Joint Max Group AF
0.00000742 (EAS)
Exomes Max Group AF
0.00000839 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47386570A>G , CM000664.2:g.47386570A>G | GRCh38 |
| NC_000002.11:g.47613709A>G , CM000664.1:g.47613709A>G | GRCh37 |
| NC_000002.10:g.47467213A>G | NCBI36 |
| NG_012352.2:g.46408A>G , LRG_215:g.46408A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263735.9:c.904-2A>G MANE Select | ENSP00000263735.4:n.904-2A>G | |
| ENST00000263735.8:c.904-2A>G | ENSP00000263735.4:n.904-2A>G | |
| ENST00000405271.5:c.988-2A>G | ENSP00000385476.1:n.988-2A>G | |
| ENST00000456133.5:c.988-2A>G | ENSP00000410675.1:n.988-2A>G | |
| NM_002354.2:c.904-2A>G , LRG_215t1:c.904-2A>G | NP_002345.2:n.904-2A>G | |
| NM_002354.3:c.904-2A>G MANE Select | NP_002345.2:n.904-2A>G |