gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.82966132 (SAS)
Genomes Max Group AF
0.79097305 (SAS)
Exomes Max Group AF
0.83029125 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.23783476A>G , CM000685.2:g.23783476A>G | GRCh38 |
| NC_000023.10:g.23801593A>G , CM000685.1:g.23801593A>G | GRCh37 |
| NC_000023.9:g.23711514A>G | NCBI36 |
| NG_012929.1:g.5319A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379270.5:c.66+59A>G MANE Select | ENSP00000368572.4:n.66+59A>G | |
| ENST00000379251.7:c.66+59A>G | ENSP00000368553.3:n.66+59A>G | |
| ENST00000379253.7:c.66+59A>G | ENSP00000368555.3:n.66+59A>G | |
| ENST00000379254.5:c.66+59A>G | ENSP00000368556.1:n.66+59A>G | |
| ENST00000379270.4:c.66+59A>G | ENSP00000368572.4:n.66+59A>G | |
| ENST00000463236.5:n.81+59A>G | ||
| ENST00000489394.5:n.221+59A>G | ||
| NM_002970.3:c.66+59A>G | NP_002961.1:n.66+59A>G | |
| NR_027783.2:n.260+59A>G | ||
| XM_024452421.1:c.-1274+59A>G | XP_024308189.1:n.-1274+59A>G | |
| NM_002970.4:c.66+59A>G MANE Select | NP_002961.1:n.66+59A>G | |
| NR_027783.3:n.245+59A>G |