gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00547417 (NFE)
Genomes Max Group AF
0.00553292 (NFE)
Exomes Max Group AF
0.00544498 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20457510A>T , CM000676.2:g.20457510A>T | GRCh38 |
| NC_000014.8:g.20925669A>T , CM000676.1:g.20925669A>T | GRCh37 |
| NC_000014.7:g.19995509A>T | NCBI36 |
| NG_008718.1:g.7380A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216714.8:c.*2A>T MANE Select | ENSP00000216714.3:n.*2A>T | |
| ENST00000216714.7:c.*2A>T | ENSP00000216714.3:n.*2A>T | |
| ENST00000398030.8:c.*2A>T | ENSP00000381111.4:n.*2A>T | |
| ENST00000553555.5:n.1379A>T | ||
| ENST00000555414.5:c.*2A>T | ENSP00000451979.1:n.*2A>T | |
| ENST00000557054.1:c.*370A>T | ENSP00000452212.2:n.*370A>T | |
| ENST00000557159.5:n.1575A>T | ||
| NM_001244249.1:c.*2A>T | NP_001231178.1:n.*2A>T | |
| NM_001641.3:c.*2A>T | NP_001632.2:n.*2A>T | |
| NM_080648.2:c.*2A>T | NP_542379.1:n.*2A>T | |
| NM_080649.2:c.*2A>T | NP_542380.1:n.*2A>T | |
| XM_005267581.3:c.*2A>T | XP_005267638.1:n.*2A>T | |
| XM_005267582.3:c.*2A>T | XP_005267639.1:n.*2A>T | |
| NM_001641.4:c.*2A>T MANE Select | NP_001632.2:n.*2A>T | |
| NM_001244249.2:c.*2A>T | NP_001231178.1:n.*2A>T | |
| NM_080648.3:c.*2A>T | NP_542379.1:n.*2A>T | |
| NM_080649.3:c.*2A>T | NP_542380.1:n.*2A>T |