gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48497762 (MID)
Genomes Max Group AF
0.43784069 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.110308365A>G , CM000675.2:g.110308365A>G | GRCh38 |
| NC_000013.10:g.110960712A>G , CM000675.1:g.110960712A>G | GRCh37 |
| NC_000013.9:g.109758713A>G | NCBI36 |
| NG_011544.2:g.3785T>C | |
| NG_032137.1:g.6082A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360467.7:c.99+242A>G MANE Select | ENSP00000353654.5:n.99+242A>G | |
| ENST00000400163.7:c.99+242A>G | ENSP00000383027.3:n.99+242A>G | |
| ENST00000649101.1:c.99+242A>G | ENSP00000497869.1:n.99+242A>G | |
| ENST00000650540.1:c.99+242A>G | ENSP00000497878.1:n.99+242A>G | |
| ENST00000360467.5:c.99+242A>G | ENSP00000353654.5:n.99+242A>G | |
| ENST00000400163.6:c.99+242A>G | ENSP00000383027.2:n.99+242A>G | |
| ENST00000480771.5:n.405+242A>G | ||
| NM_001846.2:c.99+242A>G | NP_001837.2:n.99+242A>G | |
| NM_001846.3:c.99+242A>G | NP_001837.2:n.99+242A>G | |
| NM_001846.4:c.99+242A>G MANE Select | NP_001837.2:n.99+242A>G |