gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92723805 (AMR)
Genomes Max Group AF
0.90180626 (AMR)
Exomes Max Group AF
0.93276988 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.550028C>G , CM000673.2:g.550028C>G | GRCh38 |
| NC_000011.9:g.550028C>G , CM000673.1:g.550028C>G | GRCh37 |
| NC_000011.8:g.540028C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270115.8:c.423+30C>G MANE Select | ENSP00000270115.7:n.423+30C>G | |
| ENST00000270115.7:c.423+30C>G | ENSP00000270115.7:n.423+30C>G | |
| NM_198075.3:c.423+30C>G | NP_932341.1:n.423+30C>G | |
| XM_005252775.2:c.423+30C>G | XP_005252832.1:n.423+30C>G | |
| XM_005252776.2:c.423+30C>G | XP_005252833.1:n.423+30C>G | |
| XM_006718132.2:c.423+30C>G | XP_006718195.1:n.423+30C>G | |
| XM_006718133.2:c.423+30C>G | XP_006718196.1:n.423+30C>G | |
| XM_006718135.2:c.423+30C>G | XP_006718198.1:n.423+30C>G | |
| XM_011519875.1:c.423+30C>G | XP_011518177.1:n.423+30C>G | |
| XM_011519876.1:c.423+30C>G | XP_011518178.1:n.423+30C>G | |
| XM_011519877.1:c.423+30C>G | XP_011518179.1:n.423+30C>G | |
| XM_011519878.1:c.423+30C>G | XP_011518180.1:n.423+30C>G | |
| XM_011519875.2:c.423+30C>G | XP_011518177.1:n.423+30C>G | |
| XM_011519877.2:c.423+30C>G | XP_011518179.1:n.423+30C>G | |
| XM_017017167.1:c.423+30C>G | XP_016872656.1:n.423+30C>G | |
| XM_017017168.1:c.423+30C>G | XP_016872657.1:n.423+30C>G | |
| NM_198075.4:c.423+30C>G MANE Select | NP_932341.1:n.423+30C>G |