gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68397821 (EAS)
Genomes Max Group AF
0.68711676 (EAS)
Exomes Max Group AF
0.67500847 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39765489C>T , CM000679.2:g.39765489C>T | GRCh38 |
| NC_000017.10:g.37921742C>T , CM000679.1:g.37921742C>T | GRCh37 |
| NC_000017.9:g.35175268C>T | NCBI36 |
| NG_029104.2:g.103700G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346872.8:c.*301G>A MANE Select | ENSP00000344544.3:n.*301G>A | |
| ENST00000293068.9:c.*1165G>A | ENSP00000462791.1:n.*1165G>A | |
| ENST00000346872.7:c.*301G>A | ENSP00000344544.3:n.*301G>A | |
| ENST00000348427.7:c.*1165G>A | ENSP00000463505.1:n.*1165G>A | |
| ENST00000377944.7:c.*301G>A | ENSP00000367179.3:n.*301G>A | |
| ENST00000377945.7:c.*301G>A | ENSP00000367180.3:n.*301G>A | |
| ENST00000377952.6:c.*301G>A | ENSP00000367188.2:n.*301G>A | |
| ENST00000377958.6:c.*301G>A | ENSP00000367194.2:n.*301G>A | |
| ENST00000394189.6:c.*301G>A | ENSP00000377741.2:n.*301G>A | |
| ENST00000439167.6:c.*301G>A | ENSP00000403776.2:n.*301G>A | |
| ENST00000535189.5:c.*301G>A | ENSP00000438972.1:n.*301G>A | |
| ENST00000623724.3:c.*301G>A | ENSP00000485515.1:n.*301G>A | |
| NM_001257408.1:c.*301G>A | NP_001244337.1:n.*301G>A | |
| NM_001257409.1:c.*301G>A | NP_001244338.1:n.*301G>A | |
| NM_001257410.1:c.*301G>A | NP_001244339.1:n.*301G>A | |
| NM_001257411.1:c.*301G>A | NP_001244340.1:n.*301G>A | |
| NM_001257412.1:c.*301G>A | NP_001244341.1:n.*301G>A | |
| NM_001257413.1:c.*301G>A | NP_001244342.1:n.*301G>A | |
| NM_001257414.1:c.*301G>A | NP_001244343.1:n.*301G>A | |
| NM_001284514.1:c.*301G>A | NP_001271443.1:n.*301G>A | |
| NM_001284515.1:c.*301G>A | NP_001271444.1:n.*301G>A | |
| NM_001284516.1:c.*301G>A | NP_001271445.1:n.*301G>A | |
| NM_012481.4:c.*301G>A | NP_036613.2:n.*301G>A | |
| NM_183228.2:c.*301G>A | NP_899051.1:n.*301G>A | |
| NM_183229.2:c.*301G>A | NP_899052.1:n.*301G>A | |
| NM_183230.2:c.*301G>A | NP_899053.1:n.*301G>A | |
| NM_183231.2:c.*301G>A | NP_899054.1:n.*301G>A | |
| NM_183232.2:c.*301G>A | NP_899055.1:n.*301G>A | |
| NM_012481.5:c.*301G>A MANE Select | NP_036613.2:n.*301G>A | |
| NM_001257408.2:c.*301G>A | NP_001244337.1:n.*301G>A | |
| NM_001257409.2:c.*301G>A | NP_001244338.1:n.*301G>A | |
| NM_001257410.2:c.*301G>A | NP_001244339.1:n.*301G>A | |
| NM_001257411.2:c.*301G>A | NP_001244340.1:n.*301G>A | |
| NM_001257412.2:c.*301G>A | NP_001244341.1:n.*301G>A | |
| NM_001257413.2:c.*301G>A | NP_001244342.1:n.*301G>A | |
| NM_001257414.2:c.*301G>A | NP_001244343.1:n.*301G>A | |
| NM_001284515.2:c.*301G>A | NP_001271444.1:n.*301G>A | |
| NM_183228.3:c.*301G>A | NP_899051.1:n.*301G>A | |
| NM_183229.3:c.*301G>A | NP_899052.1:n.*301G>A | |
| NM_183230.3:c.*301G>A | NP_899053.1:n.*301G>A | |
| NM_183231.3:c.*301G>A | NP_899054.1:n.*301G>A | |
| NM_183232.3:c.*301G>A | NP_899055.1:n.*301G>A | |
| NM_001284514.2:c.*301G>A | NP_001271443.1:n.*301G>A |