gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004373 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00002375 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585207C>G , CM000673.2:g.2585207C>G | GRCh38 |
| NC_000011.9:g.2606437C>G , CM000673.1:g.2606437C>G | GRCh37 |
| NC_000011.8:g.2563013C>G | NCBI36 |
| NG_008935.1:g.145217C>G , LRG_287:g.145217C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1662C>G | ENSP00000434560.2:n.771+1662C>G | |
| ENST00000646564.2:c.588+1662C>G | ENSP00000495806.2:n.588+1662C>G | |
| ENST00000155840.12:c.1033-5C>G MANE Select | ENSP00000155840.2:n.1033-5C>G | |
| ENST00000335475.6:c.652-5C>G | ENSP00000334497.5:n.652-5C>G | |
| ENST00000646564.1:c.234+1662C>G | ENSP00000495806.1:n.234+1662C>G | |
| ENST00000155840.9:c.1033-5C>G | ENSP00000155840.2:n.1033-5C>G | |
| ENST00000335475.5:c.652-5C>G | ENSP00000334497.5:n.652-5C>G | |
| NM_000218.2:c.1033-5C>G , LRG_287t1:c.1033-5C>G | NP_000209.2:n.1033-5C>G | |
| NM_181798.1:c.652-5C>G , LRG_287t2:c.652-5C>G | NP_861463.1:n.652-5C>G | |
| NM_000218.3:c.1033-5C>G MANE Select | NP_000209.2:n.1033-5C>G |