gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.66866746 (EAS)
Genomes Max Group AF
0.66866746 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237907946T>G , CM000664.2:g.237907946T>G | GRCh38 |
| NC_000002.11:g.238816588T>G , CM000664.1:g.238816588T>G | GRCh37 |
| NC_000002.10:g.238481327T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254661.5:c.192-3582T>G MANE Select | ENSP00000254661.4:n.192-3582T>G | |
| ENST00000254661.4:c.192-3582T>G | ENSP00000254661.4:n.192-3582T>G | |
| ENST00000403885.1:c.126-3582T>G | ENSP00000386046.1:n.126-3582T>G | |
| ENST00000404910.6:c.126-3582T>G | ENSP00000384688.2:n.126-3582T>G | |
| ENST00000409726.5:c.126-3582T>G | ENSP00000386720.1:n.126-3582T>G | |
| NM_001308353.1:c.126-3582T>G | NP_001295282.1:n.126-3582T>G | |
| NM_005855.2:c.192-3582T>G | NP_005846.1:n.192-3582T>G | |
| NM_005855.3:c.192-3582T>G | NP_005846.1:n.192-3582T>G | |
| XM_011510478.1:c.75-3582T>G | XP_011508780.1:n.75-3582T>G | |
| XM_017003152.2:c.126-3582T>G | XP_016858641.1:n.126-3582T>G | |
| XM_017003153.2:c.126-3582T>G | XP_016858642.1:n.126-3582T>G | |
| XM_017003154.1:c.126-3582T>G | XP_016858643.1:n.126-3582T>G | |
| XM_017003156.2:c.126-3582T>G | XP_016858645.1:n.126-3582T>G | |
| NM_005855.4:c.192-3582T>G MANE Select | NP_005846.1:n.192-3582T>G | |
| NM_001308353.2:c.126-3582T>G | NP_001295282.1:n.126-3582T>G |