gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0833334 (NFE)
Genomes Max Group AF
0.0833334 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220589182C>T , CM000663.2:g.220589182C>T | GRCh38 |
| NC_000001.10:g.220762524C>T , CM000663.1:g.220762524C>T | GRCh37 |
| NC_000001.9:g.218829147C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366917.6:c.309+8064C>T MANE Select | ENSP00000355884.5:n.309+8064C>T | |
| ENST00000676500.1:n.657+8064C>T | ||
| ENST00000677041.1:c.*232+8064C>T | ENSP00000504826.1:n.*232+8064C>T | |
| ENST00000677173.1:n.579+8064C>T | ||
| ENST00000677505.1:c.309+8064C>T | ENSP00000504370.1:n.309+8064C>T | |
| ENST00000678353.1:n.709+8064C>T | ||
| ENST00000678435.1:c.-22+8064C>T | ENSP00000503257.1:n.-22+8064C>T | |
| ENST00000678922.1:n.469+8064C>T | ||
| ENST00000679033.1:c.309+8064C>T | ENSP00000504077.1:n.309+8064C>T | |
| ENST00000366917.5:c.309+8064C>T | ENSP00000355884.4:n.309+8064C>T | |
| ENST00000366918.8:c.309+8064C>T | ENSP00000355885.4:n.309+8064C>T | |
| ENST00000402574.5:c.309+8064C>T | ENSP00000386017.2:n.309+8064C>T | |
| ENST00000611084.4:c.309+8064C>T | ENSP00000483424.1:n.309+8064C>T | |
| NM_001286124.1:c.309+8064C>T | NP_001273053.1:n.309+8064C>T | |
| NM_001286126.1:c.309+8064C>T | NP_001273055.1:n.309+8064C>T | |
| NM_001286128.1:c.309+8064C>T | NP_001273057.1:n.309+8064C>T | |
| NM_018650.4:c.309+8064C>T | NP_061120.3:n.309+8064C>T | |
| XM_005273134.3:c.309+8064C>T | XP_005273191.1:n.309+8064C>T | |
| XM_006711326.2:c.-94-4722C>T | XP_006711389.1:n.-94-4722C>T | |
| XM_011509561.1:c.285+8064C>T | XP_011507863.1:n.285+8064C>T | |
| XM_011509562.1:c.-50+8064C>T | XP_011507864.1:n.-50+8064C>T | |
| XM_005273134.5:c.309+8064C>T | XP_005273191.1:n.309+8064C>T | |
| XM_006711326.4:c.-94-4722C>T | XP_006711389.1:n.-94-4722C>T | |
| XM_011509561.3:c.285+8064C>T | XP_011507863.1:n.285+8064C>T | |
| XM_011509562.3:c.-50+8064C>T | XP_011507864.1:n.-50+8064C>T | |
| XM_017001305.2:c.-22+8064C>T | XP_016856794.1:n.-22+8064C>T | |
| XM_017001306.2:c.-50+8064C>T | XP_016856795.1:n.-50+8064C>T | |
| XM_017001307.2:c.-22+8064C>T | XP_016856796.1:n.-22+8064C>T | |
| XM_024447090.1:c.309+8064C>T | XP_024302858.1:n.309+8064C>T | |
| NM_001286128.2:c.309+8064C>T | NP_001273057.1:n.309+8064C>T | |
| NM_018650.5:c.309+8064C>T MANE Select | NP_061120.3:n.309+8064C>T | |
| NM_001286124.2:c.309+8064C>T | NP_001273053.1:n.309+8064C>T | |
| NM_001286126.2:c.309+8064C>T | NP_001273055.1:n.309+8064C>T |