gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.47897653 (NFE)
Genomes Max Group AF
0.47955936 (NFE)
Exomes Max Group AF
0.47870153 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6326405A>G , CM000674.2:g.6326405A>G | GRCh38 |
| NC_000012.11:g.6435571A>G , CM000674.1:g.6435571A>G | GRCh37 |
| NC_000012.10:g.6305832A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684764.1:c.1525-23A>G MANE Select | ENSP00000506982.1:n.1525-23A>G | |
| ENST00000011684.11:c.1525-23A>G | ENSP00000011684.7:n.1525-23A>G | |
| ENST00000304581.8:c.115-23A>G | ENSP00000304640.8:n.115-23A>G | |
| ENST00000396988.7:c.1525-23A>G | ENSP00000380185.3:n.1525-23A>G | |
| ENST00000449001.6:c.1429-23A>G | ENSP00000393194.2:n.1429-23A>G | |
| NM_001144856.1:c.1525-23A>G | NP_001138328.1:n.1525-23A>G | |
| NM_001144857.1:c.1429-23A>G | NP_001138329.1:n.1429-23A>G | |
| NM_018173.3:c.1525-23A>G | NP_060643.2:n.1525-23A>G | |
| XM_005253704.3:c.1525-23A>G | XP_005253761.1:n.1525-23A>G | |
| XM_006718985.2:c.1483-23A>G | XP_006719048.1:n.1483-23A>G | |
| XM_011520967.1:c.1459-23A>G | XP_011519269.1:n.1459-23A>G | |
| XR_931514.1:n.1869-23A>G | ||
| XM_005253704.4:c.1525-23A>G | XP_005253761.1:n.1525-23A>G | |
| XM_006718985.3:c.1483-23A>G | XP_006719048.1:n.1483-23A>G | |
| XM_011520967.2:c.1459-23A>G | XP_011519269.1:n.1459-23A>G | |
| XM_017019555.1:c.1525-23A>G | XP_016875044.1:n.1525-23A>G | |
| XR_931514.2:n.1873-23A>G | ||
| NM_001144856.2:c.1525-23A>G | NP_001138328.1:n.1525-23A>G | |
| NM_001144857.2:c.1183-23A>G | NP_001138329.2:n.1183-23A>G | |
| NM_001384598.1:c.1525-23A>G MANE Select | NP_001371527.1:n.1525-23A>G | |
| NM_001384599.1:c.1522-23A>G | NP_001371528.1:n.1522-23A>G | |
| NM_001384600.1:c.1459-23A>G | NP_001371529.1:n.1459-23A>G | |
| NM_001384604.1:c.1573-23A>G | NP_001371533.1:n.1573-23A>G | |
| NM_018173.4:c.1525-23A>G | NP_060643.2:n.1525-23A>G | |
| NR_169277.1:n.1819-23A>G | ||
| NR_169278.1:n.1863-23A>G |