gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.6588934 (SAS)
Genomes Max Group AF
0.6588934 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.191153045T>C , CM000664.2:g.191153045T>C | GRCh38 |
| NC_000002.11:g.192017771T>C , CM000664.1:g.192017771T>C | GRCh37 |
| NC_000002.10:g.191726016T>C | NCBI36 |
| NG_012852.1:g.3155A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_005246817.3:c.27-4841A>G | XP_005246874.1:n.27-4841A>G | |
| XM_011511704.1:c.27-4841A>G | XP_011510006.1:n.27-4841A>G | |
| XM_011511705.1:c.-2+2173A>G | XP_011510007.1:n.-2+2173A>G | |
| XM_011511706.1:c.27-4841A>G | XP_011510008.1:n.27-4841A>G | |
| XM_011511705.2:c.-2+2173A>G | XP_011510007.1:n.-2+2173A>G |