gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001172 (NFE)
Genomes Max Group AF
0.00001172 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147879319C>G , CM000669.2:g.147879319C>G | GRCh38 |
| NC_000007.13:g.147576411C>G , CM000669.1:g.147576411C>G | GRCh37 |
| NC_000007.12:g.147207344C>G | NCBI36 |
| NG_007092.2:g.1767959C>G | |
| NG_007092.3:g.1768319C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.2099-24246C>G MANE Select | ENSP00000354778.3:n.2099-24246C>G | |
| ENST00000636870.1:n.1961-24246C>G | ||
| ENST00000637825.1:n.1582-24246C>G | ||
| ENST00000361727.7:c.2099-24246C>G | ENSP00000354778.3:n.2099-24246C>G | |
| ENST00000455301.2:n.34-24246C>G | ||
| ENST00000627772.2:n.272-24246C>G | ||
| NM_014141.5:c.2099-24246C>G | NP_054860.1:n.2099-24246C>G | |
| XM_006715919.1:c.587-24246C>G | XP_006715982.1:n.587-24246C>G | |
| NM_014141.6:c.2099-24246C>G MANE Select | NP_054860.1:n.2099-24246C>G |