gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.9206186 (EAS)
Genomes Max Group AF
0.9206186 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8047173T>G , CM000672.2:g.8047173T>G | GRCh38 |
| NC_000010.10:g.8089136T>G , CM000672.1:g.8089136T>G | GRCh37 |
| NC_000010.9:g.8129142T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643001.1:c.-370+1658T>G | ENSP00000494284.1:n.-370+1658T>G | |
| XM_005252443.3:c.-370+1658T>G | XP_005252500.1:n.-370+1658T>G | |
| XM_011519800.1:c.213+134T>G | XP_011518102.1:n.213+134T>G | |
| XM_005252443.5:c.-370+1658T>G | XP_005252500.1:n.-370+1658T>G |