dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.54287339 (AFR)
Genomes Max Group AF
0.54287339 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.99995928C>T , CM000673.2:g.99995928C>T | GRCh38 |
| NC_000011.9:g.99866660C>T , CM000673.1:g.99866660C>T | GRCh37 |
| NC_000011.8:g.99371870C>T | NCBI36 |
| NG_047156.1:g.979953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524871.6:c.878-6106C>T MANE Select | ENSP00000435637.1:n.878-6106C>T | |
| ENST00000279463.7:c.830-6106C>T | ENSP00000279463.4:n.830-6106C>T | |
| ENST00000418526.6:c.656-6106C>T | ENSP00000393229.2:n.656-6106C>T | |
| ENST00000524871.5:c.878-6106C>T | ENSP00000435637.1:n.878-6106C>T | |
| ENST00000525236.1:n.205-6106C>T | ||
| ENST00000527185.5:c.878-6106C>T | ENSP00000433575.1:n.878-6106C>T | |
| ENST00000528682.5:c.878-6106C>T | ENSP00000436185.1:n.878-6106C>T | |
| ENST00000528727.5:n.1382-6106C>T | ||
| ENST00000619298.1:c.644-6106C>T | ENSP00000478120.1:n.644-6106C>T | |
| NM_001243270.1:c.878-6106C>T | NP_001230199.1:n.878-6106C>T | |
| NM_001243271.1:c.878-6106C>T | NP_001230200.1:n.878-6106C>T | |
| NM_014361.3:c.878-6106C>T | NP_055176.1:n.878-6106C>T | |
| NM_175566.2:c.656-6106C>T | NP_780775.1:n.656-6106C>T | |
| XM_011542871.1:c.656-6106C>T | XP_011541173.1:n.656-6106C>T | |
| XM_011542872.1:c.878-6106C>T | XP_011541174.1:n.878-6106C>T | |
| XM_011542873.1:c.878-6106C>T | XP_011541175.1:n.878-6106C>T | |
| XM_017017926.1:c.878-6106C>T | XP_016873415.1:n.878-6106C>T | |
| XM_017017927.1:c.878-6106C>T | XP_016873416.1:n.878-6106C>T | |
| XM_017017928.1:c.878-6106C>T | XP_016873417.1:n.878-6106C>T | |
| XM_017017929.1:c.656-6106C>T | XP_016873418.1:n.656-6106C>T | |
| XR_001747909.1:n.1382-6106C>T | ||
| NM_014361.4:c.878-6106C>T MANE Select | NP_055176.1:n.878-6106C>T | |
| NM_001243270.2:c.878-6106C>T | NP_001230199.1:n.878-6106C>T | |
| NM_001243271.2:c.878-6106C>T | NP_001230200.1:n.878-6106C>T |