gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06507982 (NFE)
Genomes Max Group AF
0.06521294 (NFE)
Exomes Max Group AF
0.06363128 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.63126688T>C , CM000680.2:g.63126688T>C | GRCh38 |
| NC_000018.9:g.60793921T>C , CM000680.1:g.60793921T>C | GRCh37 |
| NC_000018.8:g.58944901T>C | NCBI36 |
| NG_009361.1:g.197693A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333681.5:c.*1937A>G MANE Select | ENSP00000329623.3:n.*1937A>G | |
| ENST00000677635.1:n.2221A>G | ||
| ENST00000678134.1:c.2861A>G | ENSP00000503628.1:n.2861A>G | |
| ENST00000678301.1:c.*1937A>G | ENSP00000504546.1:n.*1937A>G | |
| ENST00000678349.1:c.3209A>G | ENSP00000504190.1:n.3209A>G | |
| ENST00000398117.1:c.*1937A>G | ENSP00000381185.1:n.*1937A>G | |
| NM_000633.2:c.*1937A>G | NP_000624.2:n.*1937A>G | |
| NM_000633.3:c.*1937A>G MANE Select | NP_000624.2:n.*1937A>G |