gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.90472646 (AFR)
Genomes Max Group AF
0.90472646 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46976961T>C , CM000673.2:g.46976961T>C | GRCh38 |
| NC_000011.9:g.46998512T>C , CM000673.1:g.46998512T>C | GRCh37 |
| NC_000011.8:g.46955088T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278460.12:c.47-10247T>C MANE Select | ENSP00000278460.8:n.47-10247T>C | |
| ENST00000278460.11:c.47-10247T>C | ENSP00000278460.7:n.47-10247T>C | |
| ENST00000378615.7:c.47-10247T>C | ENSP00000367878.3:n.47-10247T>C | |
| ENST00000378618.6:c.47-10247T>C | ENSP00000367881.2:n.47-10247T>C | |
| ENST00000395460.6:c.47-10247T>C | ENSP00000378844.2:n.47-10247T>C | |
| ENST00000522712.6:n.108-10247T>C | ||
| ENST00000525279.5:c.47-10247T>C | ENSP00000432186.1:n.47-10247T>C | |
| ENST00000525895.5:c.46+40110T>C | ENSP00000432535.1:n.46+40110T>C | |
| ENST00000526424.5:c.186-10247T>C | ENSP00000434380.1:n.186-10247T>C | |
| ENST00000527234.5:n.104+40110T>C | ||
| ENST00000527667.5:c.47-10247T>C | ENSP00000436097.1:n.47-10247T>C | |
| ENST00000527784.5:c.47-10247T>C | ENSP00000436571.1:n.47-10247T>C | |
| ENST00000528488.5:c.47-10247T>C | ENSP00000436595.1:n.47-10247T>C | |
| ENST00000531648.5:n.105-10247T>C | ||
| ENST00000532633.5:c.47-10247T>C | ENSP00000437259.1:n.47-10247T>C | |
| ENST00000532840.5:n.93-10247T>C | ||
| ENST00000533124.5:n.163+40110T>C | ||
| NM_001003676.2:c.47-10247T>C | NP_001003676.1:n.47-10247T>C | |
| NM_001003677.2:c.47-10247T>C | NP_001003677.1:n.47-10247T>C | |
| NM_001003678.2:c.47-10247T>C | NP_001003678.1:n.47-10247T>C | |
| NM_001278222.1:c.122+40110T>C | NP_001265151.1:n.122+40110T>C | |
| NM_024113.4:c.47-10247T>C | NP_077018.1:n.47-10247T>C | |
| NR_103471.1:n.164-10247T>C | ||
| NR_103472.1:n.164-10247T>C | ||
| XM_006718315.1:c.47-10247T>C | XP_006718378.1:n.47-10247T>C | |
| XM_011520364.1:c.122+40110T>C | XP_011518666.1:n.122+40110T>C | |
| XM_011520365.1:c.47-10247T>C | XP_011518667.1:n.47-10247T>C | |
| XM_006718315.2:c.47-10247T>C | XP_006718378.1:n.47-10247T>C | |
| XM_011520364.2:c.122+40110T>C | XP_011518666.1:n.122+40110T>C | |
| XM_011520365.3:c.47-10247T>C | XP_011518667.1:n.47-10247T>C | |
| XM_017018276.2:c.47-10247T>C | XP_016873765.1:n.47-10247T>C | |
| XM_017018277.2:c.-75-10247T>C | XP_016873766.1:n.-75-10247T>C | |
| XM_017018278.1:c.-427-10247T>C | XP_016873767.1:n.-427-10247T>C | |
| XM_017018279.1:c.-490-10247T>C | XP_016873768.1:n.-490-10247T>C | |
| XM_017018280.1:c.-1215-10247T>C | XP_016873769.1:n.-1215-10247T>C | |
| XM_017018281.1:c.-1113+40110T>C | XP_016873770.1:n.-1113+40110T>C | |
| XM_017018282.1:c.-427-10247T>C | XP_016873771.1:n.-427-10247T>C | |
| NM_001003677.3:c.47-10247T>C | NP_001003677.1:n.47-10247T>C | |
| NM_001003678.3:c.47-10247T>C | NP_001003678.1:n.47-10247T>C | |
| NM_024113.5:c.47-10247T>C MANE Select | NP_077018.1:n.47-10247T>C | |
| NR_103471.2:n.92-10247T>C | ||
| NR_103472.2:n.92-10247T>C | ||
| NM_001003676.3:c.47-10247T>C | NP_001003676.1:n.47-10247T>C |