gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98974757 (NFE)
Genomes Max Group AF
0.98974679 (NFE)
Exomes Max Group AF
0.54254003 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.74521136A>G , CM000680.2:g.74521136A>G | GRCh38 |
| NC_000018.9:g.72188371A>G , CM000680.1:g.72188371A>G | GRCh37 |
| NC_000018.8:g.70339351A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324262.9:c.*1068A>G MANE Select | ENSP00000325548.4:n.*1068A>G | |
| ENST00000324262.8:c.*1068A>G | ENSP00000325548.4:n.*1068A>G | |
| NM_001168499.1:c.*1068A>G | NP_001161971.1:n.*1068A>G | |
| NM_018235.2:c.*1068A>G | NP_060705.2:n.*1068A>G | |
| NM_018235.3:c.*1068A>G MANE Select | NP_060705.2:n.*1068A>G | |
| NM_001370248.1:c.*1068A>G | NP_001357177.1:n.*1068A>G | |
| NM_001370249.1:c.*1068A>G | NP_001357178.1:n.*1068A>G | |
| NM_001370250.1:c.*1068A>G | NP_001357179.1:n.*1068A>G | |
| NM_001370254.1:c.*1068A>G | NP_001357183.1:n.*1068A>G | |
| NM_001168499.2:c.*1068A>G | NP_001161971.1:n.*1068A>G |