gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019138 (NFE)
Genomes Max Group AF
0.000124 (NFE)
Exomes Max Group AF
0.00019135 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78472342C>G , CM000666.2:g.78472342C>G | GRCh38 |
| NC_000004.11:g.79393496C>G , CM000666.1:g.79393496C>G | GRCh37 |
| NC_000004.10:g.79612520C>G | NCBI36 |
| NG_015812.1:g.419773C>G | |
| NG_015812.2:g.419773C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.7522+12C>G | ENSP00000508201.1:n.7522+12C>G | |
| ENST00000512123.4:c.7522+12C>G MANE Select | ENSP00000422834.2:n.7522+12C>G | |
| ENST00000512123.3:c.7522+12C>G | ENSP00000422834.2:n.7522+12C>G | |
| NM_025074.6:c.7522+12C>G | NP_079350.5:n.7522+12C>G | |
| XM_006714314.1:c.7516+12C>G | XP_006714377.1:n.7516+12C>G | |
| XM_006714316.1:c.7294+12C>G | XP_006714379.1:n.7294+12C>G | |
| XM_011532270.1:c.5221+12C>G | XP_011530572.1:n.5221+12C>G | |
| XM_011532271.1:c.2410+12C>G | XP_011530573.1:n.2410+12C>G | |
| XM_006714316.3:c.7294+12C>G | XP_006714379.1:n.7294+12C>G | |
| NM_025074.7:c.7522+12C>G MANE Select | NP_079350.5:n.7522+12C>G |