gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0015959 (EAS)
Genomes Max Group AF
0.0015959 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.19704605C>T , CM000686.2:g.19704605C>T | GRCh38 |
| NC_000024.9:g.21866491C>T , CM000686.1:g.21866491C>T | GRCh37 |
| NC_000024.8:g.20325879C>T | NCBI36 |
| NG_032920.1:g.45335G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317961.9:c.*1390G>A MANE Select | ENSP00000322408.4:n.*1390G>A | |
| ENST00000469599.6:n.4761G>A | ||
| NM_001146706.2:c.*1390G>A | NP_001140178.1:n.*1390G>A | |
| NM_004653.5:c.*1390G>A MANE Select | NP_004644.2:n.*1390G>A | |
| NM_001146705.2:c.*1390G>A | NP_001140177.1:n.*1390G>A |