gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.92972293 (EAS)
Genomes Max Group AF
0.90471666 (EAS)
Exomes Max Group AF
0.93105132 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.168923386T>C , CM000664.2:g.168923386T>C | GRCh38 |
| NC_000002.11:g.169779896T>C , CM000664.1:g.169779896T>C | GRCh37 |
| NC_000002.10:g.169488142T>C | NCBI36 |
| NG_007374.1:g.112938A>G | |
| NG_007374.2:g.113011A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648875.1:c.226+1271A>G | ||
| ENST00000649448.1:c.2579A>G | ENSP00000497165.1:n.2579A>G | |
| ENST00000650372.1:c.*236A>G MANE Select | ENSP00000497931.1:n.*236A>G | |
| ENST00000263817.6:c.*236A>G | ENSP00000263817.6:n.*236A>G | |
| ENST00000439188.1:c.2819A>G | ENSP00000416058.1:n.2819A>G | |
| NM_003742.2:c.*236A>G | NP_003733.2:n.*236A>G | |
| XM_006712817.2:c.*236A>G | XP_006712880.1:n.*236A>G | |
| XM_011512077.1:c.*236A>G | XP_011510379.1:n.*236A>G | |
| XM_011512078.1:c.*190A>G | XP_011510380.1:n.*190A>G | |
| XM_011512079.1:c.*236A>G | XP_011510381.1:n.*236A>G | |
| XM_011512081.1:c.*236A>G | XP_011510383.1:n.*236A>G | |
| NM_003742.4:c.*236A>G MANE Select | NP_003733.2:n.*236A>G | |
| XM_006712817.3:c.*236A>G | XP_006712880.1:n.*236A>G | |
| XM_011512077.2:c.*236A>G | XP_011510379.1:n.*236A>G | |
| XM_011512078.2:c.*190A>G | XP_011510380.1:n.*190A>G | |
| XM_011512081.2:c.*236A>G | XP_011510383.1:n.*236A>G | |
| XM_017005165.1:c.3867+1271A>G | XP_016860654.1:n.3867+1271A>G | |
| XM_017005166.1:c.*236A>G | XP_016860655.1:n.*236A>G | |
| XM_017005167.1:c.*236A>G | XP_016860656.1:n.*236A>G |