gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00409532 (AFR)
Genomes Max Group AF
0.00448101 (AFR)
Exomes Max Group AF
0.00327011 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119815306C>G , CM000665.2:g.119815306C>G | GRCh38 |
| NC_000003.11:g.119534153C>G , CM000665.1:g.119534153C>G | GRCh37 |
| NC_000003.10:g.121016843C>G | NCBI36 |
| NG_011856.1:g.39823C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393716.8:c.938-17C>G MANE Select | ENSP00000377319.3:n.938-17C>G | |
| ENST00000466380.6:c.827-17C>G | ENSP00000420297.2:n.827-17C>G | |
| ENST00000337940.4:c.1055-17C>G | ENSP00000336528.4:n.1055-17C>G | |
| ENST00000393716.6:c.938-17C>G | ENSP00000377319.2:n.938-17C>G | |
| ENST00000466380.5:c.827-17C>G | ENSP00000420297.1:n.827-17C>G | |
| ENST00000493757.1:n.1070-17C>G | ||
| NM_003889.3:c.938-17C>G | NP_003880.3:n.938-17C>G | |
| NM_022002.2:c.1055-17C>G | NP_071285.1:n.1055-17C>G | |
| NM_033013.2:c.827-17C>G | NP_148934.1:n.827-17C>G | |
| NM_003889.4:c.938-17C>G MANE Select | NP_003880.3:n.938-17C>G | |
| NM_022002.3:c.1055-17C>G | NP_071285.1:n.1055-17C>G | |
| NM_033013.3:c.827-17C>G | NP_148934.1:n.827-17C>G |