gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.49878449 (EAS)
Genomes Max Group AF
0.49878449 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99412399G>A , CM000666.2:g.99412399G>A | GRCh38 |
| NC_000004.11:g.100333556G>A , CM000666.1:g.100333556G>A | GRCh37 |
| NC_000004.10:g.100552579G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437033.7:c.*749C>T MANE Select | ENSP00000414254.2:n.*749C>T | |
| ENST00000209665.8:c.*749C>T | ENSP00000209665.4:n.*749C>T | |
| ENST00000437033.6:c.*749C>T | ENSP00000414254.2:n.*749C>T | |
| NM_000673.4:c.*749C>T | NP_000664.2:n.*749C>T | |
| NM_001166504.1:c.*749C>T | NP_001159976.1:n.*749C>T | |
| NM_000673.7:c.*749C>T MANE Select | NP_000664.3:n.*749C>T | |
| NM_001166504.2:c.*749C>T | NP_001159976.1:n.*749C>T |