gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.79895132 (AMR)
Genomes Max Group AF
0.79895132 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.139954457C>T , CM000669.2:g.139954457C>T | GRCh38 |
| NC_000007.13:g.139654256C>T , CM000669.1:g.139654256C>T | GRCh37 |
| NC_000007.12:g.139300725C>T | NCBI36 |
| NG_008422.2:g.181076C>T , LRG_579:g.181076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336425.10:c.540-1002C>T | ENSP00000338087.7:n.540-1002C>T | |
| ENST00000411653.6:c.540-1002C>T | ENSP00000411326.3:n.540-1002C>T | |
| ENST00000422328.6:c.*329-1002C>T | ENSP00000415892.3:n.*329-1002C>T | |
| ENST00000448866.7:c.540-1002C>T MANE Select | ENSP00000402536.3:n.540-1002C>T | |
| ENST00000458722.6:c.678-1002C>T | ENSP00000411274.3:n.678-1002C>T | |
| ENST00000650822.1:c.543-1002C>T | ENSP00000498517.1:n.543-1002C>T | |
| ENST00000652056.1:c.543-1002C>T | ENSP00000498271.1:n.543-1002C>T | |
| ENST00000263552.10:c.543-1002C>T | ENSP00000263552.6:n.543-1002C>T | |
| ENST00000336425.9:c.540-1002C>T | ENSP00000338087.5:n.540-1002C>T | |
| ENST00000411653.5:c.540-1002C>T | ENSP00000411326.1:n.540-1002C>T | |
| ENST00000414508.6:c.543-1002C>T | ENSP00000392702.2:n.543-1002C>T | |
| ENST00000416849.6:c.681-1002C>T | ENSP00000389414.2:n.681-1002C>T | |
| ENST00000422328.5:c.*329-1002C>T | ENSP00000415892.1:n.*329-1002C>T | |
| ENST00000425687.5:c.339-1002C>T | ENSP00000388736.1:n.339-1002C>T | |
| ENST00000448866.5:c.540-1002C>T | ENSP00000402536.1:n.540-1002C>T | |
| ENST00000458722.5:c.678-1002C>T | ENSP00000411274.1:n.678-1002C>T | |
| ENST00000462275.5:n.511-1002C>T | ||
| ENST00000469630.1:n.23-1002C>T | ||
| NM_001061.4:c.543-1002C>T | NP_001052.2:n.543-1002C>T | |
| NM_001130966.2:c.543-1002C>T , LRG_579t1:c.543-1002C>T | NP_001124438.1:n.543-1002C>T | |
| NM_001166253.1:c.681-1002C>T , LRG_579t4:c.681-1002C>T | NP_001159725.1:n.681-1002C>T | |
| NM_001166254.1:c.339-1002C>T , LRG_579t3:c.339-1002C>T | NP_001159726.1:n.339-1002C>T | |
| NM_001314028.1:c.483-1002C>T | NP_001300957.1:n.483-1002C>T | |
| NM_030984.3:c.543-1002C>T , LRG_579t2:c.543-1002C>T | NP_112246.2:n.543-1002C>T | |
| NR_029394.1:c.-4294966489-1002C>T | ||
| XM_011516544.1:c.543-1002C>T | XP_011514846.1:n.543-1002C>T | |
| NM_001061.5:c.540-1002C>T | NP_001052.3:n.540-1002C>T | |
| NM_001130966.3:c.540-1002C>T | NP_001124438.2:n.540-1002C>T | |
| NM_001166253.2:c.678-1002C>T | NP_001159725.2:n.678-1002C>T | |
| NM_001166254.2:c.339-1002C>T | NP_001159726.1:n.339-1002C>T | |
| NM_001314028.2:c.483-1002C>T | NP_001300957.1:n.483-1002C>T | |
| NM_001366537.1:c.357-1002C>T | NP_001353466.1:n.357-1002C>T | |
| NM_030984.4:c.540-1002C>T | NP_112246.3:n.540-1002C>T | |
| XM_011516544.3:c.543-1002C>T | XP_011514846.1:n.543-1002C>T | |
| XM_017012570.2:c.543-1002C>T | XP_016868059.1:n.543-1002C>T | |
| XM_017012571.2:c.543-1002C>T | XP_016868060.1:n.543-1002C>T | |
| XM_017012572.2:c.543-1002C>T | XP_016868061.1:n.543-1002C>T | |
| XM_024446901.1:c.285-1002C>T | XP_024302669.1:n.285-1002C>T | |
| NM_001061.7:c.540-1002C>T MANE Select | NP_001052.3:n.540-1002C>T | |
| NM_001130966.4:c.540-1002C>T | NP_001124438.2:n.540-1002C>T | |
| NM_001166253.3:c.678-1002C>T | NP_001159725.2:n.678-1002C>T | |
| NM_001166254.3:c.339-1002C>T | NP_001159726.1:n.339-1002C>T | |
| NM_001314028.3:c.483-1002C>T | NP_001300957.1:n.483-1002C>T | |
| NM_001366537.2:c.357-1002C>T | NP_001353466.1:n.357-1002C>T | |
| NM_030984.5:c.540-1002C>T | NP_112246.3:n.540-1002C>T | |
| NM_001130966.5:c.540-1002C>T | NP_001124438.2:n.540-1002C>T | |
| NM_001166253.4:c.678-1002C>T | NP_001159725.2:n.678-1002C>T | |
| NM_001166254.4:c.339-1002C>T | NP_001159726.1:n.339-1002C>T | |
| NM_001314028.4:c.483-1002C>T | NP_001300957.1:n.483-1002C>T | |
| NM_001366537.3:c.357-1002C>T | NP_001353466.1:n.357-1002C>T | |
| NM_030984.6:c.540-1002C>T | NP_112246.3:n.540-1002C>T |