gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.29593166 (SAS)
Genomes Max Group AF
0.28990093 (SAS)
Exomes Max Group AF
0.29561359 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128839052T>A , CM000673.2:g.128839052T>A | GRCh38 |
| NC_000011.9:g.128708947T>A , CM000673.1:g.128708947T>A | GRCh37 |
| NC_000011.8:g.128214157T>A | NCBI36 |
| NG_009379.1:g.33322A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392666.6:c.*73A>T MANE Select | ENSP00000376434.1:n.*73A>T | |
| ENST00000324036.7:c.*73A>T | ENSP00000316233.3:n.*73A>T | |
| ENST00000392664.2:c.*73A>T | ENSP00000376432.2:n.*73A>T | |
| ENST00000392665.6:c.*73A>T | ENSP00000376433.2:n.*73A>T | |
| ENST00000392666.5:c.*73A>T | ENSP00000376434.1:n.*73A>T | |
| ENST00000440599.6:c.*73A>T | ENSP00000406320.2:n.*73A>T | |
| NM_000220.4:c.*73A>T | NP_000211.1:n.*73A>T | |
| NM_153764.2:c.*73A>T | NP_722448.1:n.*73A>T | |
| NM_153765.2:c.*73A>T | NP_722449.3:n.*73A>T | |
| NM_153766.2:c.*73A>T | NP_722450.1:n.*73A>T | |
| NM_153767.3:c.*73A>T | NP_722451.1:n.*73A>T | |
| NM_000220.6:c.*73A>T | NP_000211.1:n.*73A>T | |
| NM_153764.3:c.*73A>T | NP_722448.1:n.*73A>T | |
| NM_153765.3:c.*73A>T | NP_722449.3:n.*73A>T | |
| NM_153766.3:c.*73A>T MANE Select | NP_722450.1:n.*73A>T | |
| NM_153767.4:c.*73A>T | NP_722451.1:n.*73A>T |