gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.64409847 (EAS)
Genomes Max Group AF
0.64409847 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88162514T>C , CM000666.2:g.88162514T>C | GRCh38 |
| NC_000004.11:g.89083666T>C , CM000666.1:g.89083666T>C | GRCh37 |
| NC_000004.10:g.89302690T>C | NCBI36 |
| NG_032067.2:g.73809A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650821.1:c.-19-22500A>G | ENSP00000498246.1:n.-19-22500A>G | |
| ENST00000515655.5:c.-19-22500A>G | ENSP00000426917.1:n.-19-22500A>G | |
| NM_001257386.1:c.-19-22500A>G | NP_001244315.1:n.-19-22500A>G | |
| XM_005263355.2:c.-19-22500A>G | XP_005263412.1:n.-19-22500A>G | |
| XM_011532420.1:c.-19-22500A>G | XP_011530722.1:n.-19-22500A>G | |
| NM_001257386.2:c.-19-22500A>G | NP_001244315.1:n.-19-22500A>G | |
| NM_001348985.1:c.-19-22500A>G | NP_001335914.1:n.-19-22500A>G | |
| XM_005263355.4:c.-19-22500A>G | XP_005263412.1:n.-19-22500A>G | |
| XM_011532420.3:c.-19-22500A>G | XP_011530722.1:n.-19-22500A>G |