gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00015395 (SAS)
Exomes Max Group AF
0.00016323 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209792242G>A , CM000663.2:g.209792242G>A | GRCh38 |
| NC_000001.10:g.209965587G>A , CM000663.1:g.209965587G>A | GRCh37 |
| NC_000001.9:g.208032210G>A | NCBI36 |
| NG_007081.2:g.18893C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696133.1:c.667+27C>T | ENSP00000512426.1:n.667+27C>T | |
| ENST00000696134.1:c.667+27C>T | ENSP00000512427.1:n.667+27C>T | |
| ENST00000367021.8:c.667+27C>T MANE Select | ENSP00000355988.3:n.667+27C>T | |
| ENST00000643798.1:c.*177+27C>T | ENSP00000496669.1:n.*177+27C>T | |
| ENST00000367021.7:c.667+27C>T | ENSP00000355988.3:n.667+27C>T | |
| ENST00000456314.1:c.667+27C>T | ENSP00000403855.1:n.667+27C>T | |
| ENST00000464698.1:n.446+27C>T | ||
| ENST00000542854.5:c.382+27C>T | ENSP00000440532.1:n.382+27C>T | |
| NM_001206696.1:c.382+27C>T | NP_001193625.1:n.382+27C>T | |
| NM_006147.3:c.667+27C>T | NP_006138.1:n.667+27C>T | |
| NM_006147.4:c.667+27C>T MANE Select | NP_006138.1:n.667+27C>T | |
| NM_001206696.2:c.382+27C>T | NP_001193625.1:n.382+27C>T |