gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45954326 (MID)
Genomes Max Group AF
0.41049373 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18653380G>T , CM000663.2:g.18653380G>T | GRCh38 |
| NC_000001.10:g.18979874G>T , CM000663.1:g.18979874G>T | GRCh37 |
| NC_000001.9:g.18852461G>T | NCBI36 |
| NG_023262.1:g.27375G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420770.7:c.586+17009G>T MANE Select | ENSP00000403389.2:n.586+17009G>T | |
| ENST00000375375.7:c.586+17009G>T | ENSP00000364524.3:n.586+17009G>T | |
| ENST00000400661.3:c.580+17009G>T | ENSP00000383502.3:n.580+17009G>T | |
| ENST00000420770.6:c.586+17009G>T | ENSP00000403389.2:n.586+17009G>T | |
| NM_001135254.1:c.586+17009G>T | NP_001128726.1:n.586+17009G>T | |
| NM_002584.2:c.586+17009G>T | NP_002575.1:n.586+17009G>T | |
| NM_013945.2:c.580+17009G>T | NP_039236.1:n.580+17009G>T | |
| NM_001135254.2:c.586+17009G>T MANE Select | NP_001128726.1:n.586+17009G>T | |
| NM_002584.3:c.586+17009G>T | NP_002575.1:n.586+17009G>T | |
| NM_013945.3:c.580+17009G>T | NP_039236.1:n.580+17009G>T |