gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.17242533 (SAS)
Genomes Max Group AF
0.17242533 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.161681057G>A , CM000666.2:g.161681057G>A | GRCh38 |
| NC_000004.11:g.162602209G>A , CM000666.1:g.162602209G>A | GRCh37 |
| NC_000004.10:g.162821659G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306100.10:c.728-24563C>T MANE Select | ENSP00000305334.4:n.728-24563C>T | |
| ENST00000306100.9:c.728-24563C>T | ENSP00000305334.4:n.728-24563C>T | |
| ENST00000379164.8:c.725-24563C>T | ENSP00000368462.4:n.725-24563C>T | |
| ENST00000427802.2:c.725-24563C>T | ENSP00000389270.2:n.725-24563C>T | |
| NM_001128427.2:c.725-24563C>T | NP_001121899.1:n.725-24563C>T | |
| NM_001128428.2:c.725-24563C>T | NP_001121900.1:n.725-24563C>T | |
| NM_020116.4:c.728-24563C>T | NP_064501.2:n.728-24563C>T | |
| XM_011532126.1:c.728-24563C>T | XP_011530428.1:n.728-24563C>T | |
| NM_020116.5:c.728-24563C>T MANE Select | NP_064501.2:n.728-24563C>T | |
| NM_001128427.3:c.725-24563C>T | NP_001121899.1:n.725-24563C>T | |
| NM_001128428.3:c.725-24563C>T | NP_001121900.1:n.725-24563C>T |