gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000852 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94419554A>G , CM000669.2:g.94419554A>G | GRCh38 |
| NC_000007.13:g.94048866A>G , CM000669.1:g.94048866A>G | GRCh37 |
| NC_000007.12:g.93886802A>G | NCBI36 |
| NG_007405.1:g.29994A>G , LRG_2:g.29994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.2079+3A>G MANE Select | ENSP00000297268.6:n.2079+3A>G | |
| ENST00000297268.10:c.2079+3A>G | ENSP00000297268.6:n.2079+3A>G | |
| ENST00000461525.5:n.168+3A>G | ||
| ENST00000467931.1:n.99+3A>G | ||
| ENST00000473573.5:n.416+3A>G | ||
| ENST00000497316.5:n.476+3A>G | ||
| ENST00000620463.1:c.2073+3A>G | ENSP00000477719.1:n.2073+3A>G | |
| NM_000089.3:c.2079+3A>G , LRG_2t1:c.2079+3A>G | NP_000080.2:n.2079+3A>G | |
| NM_000089.4:c.2079+3A>G MANE Select | NP_000080.2:n.2079+3A>G |