dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.40191789 (AFR)
Genomes Max Group AF
0.4942085 (SAS)
Exomes Max Group AF
0.15952743 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50382924C>G , CM000681.2:g.50382924C>G | GRCh38 |
| NC_000019.9:g.50886181C>G , CM000681.1:g.50886181C>G | GRCh37 |
| NC_000019.8:g.55577993C>G | NCBI36 |
| NG_033800.1:g.3602C>G , LRG_785:g.3602C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253727.10:c.*322C>G MANE Select | ENSP00000253727.4:n.*322C>G | |
| ENST00000652203.1:c.*322C>G | ENSP00000499121.1:n.*322C>G | |
| ENST00000253727.9:c.*322C>G | ENSP00000253727.4:n.*322C>G | |
| ENST00000593532.5:c.*915C>G | ENSP00000472271.1:n.*915C>G | |
| ENST00000593926.5:c.*322C>G | ENSP00000471194.1:n.*322C>G | |
| ENST00000598168.5:c.*322C>G | ENSP00000471294.1:n.*322C>G | |
| ENST00000599105.5:c.*322C>G | ENSP00000472526.1:n.*322C>G | |
| NM_001256647.1:c.*322C>G | NP_001243576.1:n.*322C>G | |
| NM_007121.5:c.*322C>G | NP_009052.3:n.*322C>G | |
| NM_001256647.2:c.*322C>G | NP_001243576.2:n.*322C>G | |
| NM_007121.6:c.*322C>G | NP_009052.4:n.*322C>G | |
| NM_007121.7:c.*322C>G MANE Select | NP_009052.4:n.*322C>G | |
| NM_001256647.3:c.*322C>G | NP_001243576.2:n.*322C>G |