gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00981715 (AFR)
Genomes Max Group AF
0.00981715 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89213952G>C , CM000672.2:g.89213952G>C | GRCh38 |
| NC_000010.10:g.90973709G>C , CM000672.1:g.90973709G>C | GRCh37 |
| NC_000010.9:g.90963689G>C | NCBI36 |
| NG_008194.1:g.42952C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.*876C>G MANE Select | ENSP00000337354.5:n.*876C>G | |
| ENST00000336233.9:c.*876C>G | ENSP00000337354.5:n.*876C>G | |
| ENST00000371837.5:c.*876C>G | ENSP00000360903.1:n.*876C>G | |
| ENST00000456827.5:c.*876C>G | ENSP00000413019.2:n.*876C>G | |
| NM_000235.3:c.*876C>G | NP_000226.2:n.*876C>G | |
| NM_001127605.2:c.*876C>G | NP_001121077.1:n.*876C>G | |
| NM_001288979.1:c.*876C>G | NP_001275908.1:n.*876C>G | |
| XM_024448023.1:c.*876C>G | XP_024303791.1:n.*876C>G | |
| NM_000235.4:c.*876C>G MANE Select | NP_000226.2:n.*876C>G | |
| NM_001127605.3:c.*876C>G | NP_001121077.1:n.*876C>G | |
| NM_001288979.2:c.*876C>G | NP_001275908.1:n.*876C>G |