dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46776125 (AFR)
Genomes Max Group AF
0.46776125 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.13121891G>A , CM000670.2:g.13121891G>A | GRCh38 |
| NC_000008.10:g.12979400G>A , CM000670.1:g.12979400G>A | GRCh37 |
| NC_000008.9:g.13023771G>A | NCBI36 |
| NG_015998.1:g.398030C>T | |
| NG_015998.2:g.487715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276297.9:c.1349-6234C>T MANE Select | ENSP00000276297.4:n.1349-6234C>T | |
| ENST00000276297.8:c.1349-6234C>T | ENSP00000276297.4:n.1349-6234C>T | |
| ENST00000358919.6:c.38-6234C>T | ENSP00000351797.2:n.38-6234C>T | |
| ENST00000503161.6:c.-237-6234C>T | ENSP00000429537.1:n.-237-6234C>T | |
| ENST00000509922.5:n.91-6234C>T | ||
| ENST00000512044.6:c.140-6234C>T | ENSP00000422595.2:n.140-6234C>T | |
| ENST00000515225.1:n.347-6234C>T | ||
| NM_001316668.1:c.140-6234C>T | NP_001303597.1:n.140-6234C>T | |
| NM_006094.4:c.38-6234C>T | NP_006085.2:n.38-6234C>T | |
| NM_182643.2:c.1349-6234C>T | NP_872584.2:n.1349-6234C>T | |
| XM_005273374.1:c.1349-6234C>T | XP_005273431.1:n.1349-6234C>T | |
| NM_001348081.1:c.1349-6234C>T | NP_001335010.1:n.1349-6234C>T | |
| NM_001348082.1:c.-103-6234C>T | NP_001335011.1:n.-103-6234C>T | |
| NM_001348083.1:c.-185-6234C>T | NP_001335012.1:n.-185-6234C>T | |
| NM_001348084.1:c.-103-6234C>T | NP_001335013.1:n.-103-6234C>T | |
| NM_182643.3:c.1349-6234C>T MANE Select | NP_872584.2:n.1349-6234C>T | |
| NM_001316668.2:c.140-6234C>T | NP_001303597.1:n.140-6234C>T | |
| NM_001348081.2:c.1349-6234C>T | NP_001335010.1:n.1349-6234C>T | |
| NM_001348082.2:c.-103-6234C>T | NP_001335011.1:n.-103-6234C>T | |
| NM_001348084.2:c.-103-6234C>T | NP_001335013.1:n.-103-6234C>T | |
| NM_006094.5:c.38-6234C>T | NP_006085.2:n.38-6234C>T |