gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.32415156 (EAS)
Genomes Max Group AF
0.32415156 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27520287A>G , CM000664.2:g.27520287A>G | GRCh38 |
| NC_000002.11:g.27743154A>G , CM000664.1:g.27743154A>G | GRCh37 |
| NC_000002.10:g.27596658A>G | NCBI36 |
| NG_028024.1:g.28449A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264717.7:c.1572+1350A>G MANE Select | ENSP00000264717.2:n.1572+1350A>G | |
| ENST00000264717.6:c.1572+1350A>G | ENSP00000264717.2:n.1572+1350A>G | |
| NM_001486.3:c.1572+1350A>G | NP_001477.2:n.1572+1350A>G | |
| XM_011532761.1:c.1419+1350A>G | XP_011531063.1:n.1419+1350A>G | |
| XM_011532762.1:c.1002+1350A>G | XP_011531064.1:n.1002+1350A>G | |
| XM_017003796.1:c.1002+1350A>G | XP_016859285.1:n.1002+1350A>G | |
| XM_017003797.1:c.1002+1350A>G | XP_016859286.1:n.1002+1350A>G | |
| NM_001486.4:c.1572+1350A>G MANE Select | NP_001477.2:n.1572+1350A>G |