gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001203 (NFE)
Exomes Max Group AF
0.00001239 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67585120C>G , CM000673.2:g.67585120C>G | GRCh38 |
| NC_000011.9:g.67352591C>G , CM000673.1:g.67352591C>G | GRCh37 |
| NC_000011.8:g.67109167C>G | NCBI36 |
| NG_012075.1:g.6526C>G , LRG_723:g.6526C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000398603.6:c.233-18C>G | ENSP00000381604.1:n.233-18C>G | |
| ENST00000398606.10:c.233-18C>G MANE Select | ENSP00000381607.3:n.233-18C>G | |
| ENST00000646888.1:c.126-18C>G | ENSP00000494477.1:n.126-18C>G | |
| ENST00000398603.5:c.233-18C>G | ENSP00000381604.1:n.233-18C>G | |
| ENST00000398606.7:c.233-18C>G | ENSP00000381607.3:n.233-18C>G | |
| ENST00000467591.1:n.326C>G | ||
| ENST00000494593.1:n.1010C>G | ||
| ENST00000498765.5:c.278C>G | ||
| NM_000852.3:c.233-18C>G , LRG_723t1:c.233-18C>G | NP_000843.1:n.233-18C>G | |
| NM_000852.4:c.233-18C>G MANE Select | NP_000843.1:n.233-18C>G |