ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00045727 (SAS)
Genomes Max Group AF
0.00020803 (NFE)
Exomes Max Group AF
0.00046183 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677903G>A , CM000663.2:g.114677903G>A | GRCh38 |
| NC_000001.10:g.115220524G>A , CM000663.1:g.115220524G>A | GRCh37 |
| NC_000001.9:g.115022047G>A | NCBI36 |
| NG_008012.1:g.22653C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1212+7C>T | ENSP00000358551.4:n.1212+7C>T | |
| ENST00000520113.7:c.1224+7C>T MANE Select | ENSP00000430075.3:n.1224+7C>T | |
| ENST00000637080.1:c.1007+7C>T | ENSP00000489753.1:n.1007+7C>T | |
| ENST00000639077.1:n.889+7C>T | ||
| ENST00000369538.3:c.1311+7C>T | ENSP00000358551.3:n.1311+7C>T | |
| ENST00000520113.6:c.1323+7C>T | ENSP00000430075.2:n.1323+7C>T | |
| NM_000036.2:c.1323+7C>T | NP_000027.2:n.1323+7C>T | |
| NM_001172626.1:c.1311+7C>T | NP_001166097.1:n.1311+7C>T | |
| NM_000036.3:c.1224+7C>T MANE Select | NP_000027.3:n.1224+7C>T | |
| NM_001172626.2:c.1212+7C>T | NP_001166097.2:n.1212+7C>T |