gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49830022 (NFE)
Genomes Max Group AF
0.49830022 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.28140937T>C , CM000669.2:g.28140937T>C | GRCh38 |
| NC_000007.13:g.28180556T>C , CM000669.1:g.28180556T>C | GRCh37 |
| NC_000007.12:g.28147081T>C | NCBI36 |
| NG_011499.1:g.44882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283928.10:c.115+39526A>G MANE Select | ENSP00000283928.5:n.115+39526A>G | |
| ENST00000649905.1:c.116-39133A>G | ENSP00000497321.1:n.116-39133A>G | |
| ENST00000283928.9:c.115+39526A>G | ENSP00000283928.5:n.115+39526A>G | |
| ENST00000452993.5:c.115+39526A>G | ENSP00000415984.1:n.115+39526A>G | |
| ENST00000454041.1:c.115+39526A>G | ENSP00000399083.1:n.115+39526A>G | |
| NM_175061.3:c.115+39526A>G | NP_778231.2:n.115+39526A>G | |
| XM_006715656.1:c.-140+39526A>G | XP_006715719.1:n.-140+39526A>G | |
| XR_926924.1:n.230+39526A>G | ||
| NM_175061.4:c.115+39526A>G MANE Select | NP_778231.2:n.115+39526A>G |