gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04526422 (AFR)
Genomes Max Group AF
0.0443528 (AFR)
Exomes Max Group AF
0.04585811 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88814215G>C , CM000678.2:g.88814215G>C | GRCh38 |
| NC_000016.9:g.88880623G>C , CM000678.1:g.88880623G>C | GRCh37 |
| NC_000016.8:g.87408124G>C | NCBI36 |
| NG_008013.1:g.2720C>G | |
| NG_008667.1:g.47752C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268695.10:c.*224C>G MANE Select | ENSP00000268695.5:n.*224C>G | |
| ENST00000268695.9:c.*224C>G | ENSP00000268695.5:n.*224C>G | |
| ENST00000562593.5:n.5202C>G | ||
| ENST00000567525.5:c.1474C>G | ENSP00000454484.1:n.1474C>G | |
| NM_000512.4:c.*224C>G | NP_000503.1:n.*224C>G | |
| XM_005256302.1:c.*224C>G | XP_005256359.1:n.*224C>G | |
| NM_001323543.1:c.*224C>G | NP_001310472.1:n.*224C>G | |
| NM_001323544.1:c.*224C>G | NP_001310473.1:n.*224C>G | |
| XM_005256301.3:c.*2957C>G | XP_005256358.1:n.*2957C>G | |
| XM_011522982.2:c.*2957C>G | XP_011521284.1:n.*2957C>G | |
| XM_017023112.2:c.*3215C>G | XP_016878601.1:n.*3215C>G | |
| XM_017023113.1:c.*2957C>G | XP_016878602.1:n.*2957C>G | |
| NM_000512.5:c.*224C>G MANE Select | NP_000503.1:n.*224C>G | |
| NM_001323543.2:c.*224C>G | NP_001310472.1:n.*224C>G | |
| NM_001323544.2:c.*224C>G | NP_001310473.1:n.*224C>G |