dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43610484 (EAS)
Genomes Max Group AF
0.43610484 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92170369A>T , CM000676.2:g.92170369A>T | GRCh38 |
| NC_000014.8:g.92636713A>T , CM000676.1:g.92636713A>T | GRCh37 |
| NC_000014.7:g.91706466A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298875.9:c.*8625A>T MANE Select | ENSP00000298875.4:n.*8625A>T | |
| ENST00000298875.8:c.*8625A>T | ENSP00000298875.4:n.*8625A>T | |
| NM_001322270.2:c.*8625A>T | NP_001309199.1:n.*8625A>T | |
| NM_001322271.2:c.*8625A>T | NP_001309200.1:n.*8625A>T | |
| NM_001322272.2:c.*8625A>T | NP_001309201.1:n.*8625A>T | |
| NM_017437.3:c.*8625A>T MANE Select | NP_059133.1:n.*8625A>T |