gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.14268242 (NFE)
Genomes Max Group AF
0.14268242 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47105602A>G , CM000673.2:g.47105602A>G | GRCh38 |
| NC_000011.9:g.47127153A>G , CM000673.1:g.47127153A>G | GRCh37 |
| NC_000011.8:g.47083729A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278460.12:c.281-32043A>G MANE Select | ENSP00000278460.8:n.281-32043A>G | |
| ENST00000278460.11:c.281-32043A>G | ENSP00000278460.7:n.281-32043A>G | |
| ENST00000378615.7:c.281-32043A>G | ENSP00000367878.3:n.281-32043A>G | |
| ENST00000378618.6:c.281-32043A>G | ENSP00000367881.2:n.281-32043A>G | |
| ENST00000395460.6:c.281-32043A>G | ENSP00000378844.2:n.281-32043A>G | |
| ENST00000525279.5:c.*187-32043A>G | ENSP00000432186.1:n.*187-32043A>G | |
| ENST00000525895.5:c.178-32043A>G | ENSP00000432535.1:n.178-32043A>G | |
| ENST00000526827.1:c.59-32043A>G | ENSP00000433707.1:n.59-32043A>G | |
| ENST00000527234.5:n.236-32043A>G | ||
| ENST00000527268.5:n.417-32043A>G | ||
| ENST00000527667.5:c.*236-32043A>G | ENSP00000436097.1:n.*236-32043A>G | |
| ENST00000527784.5:c.150-32043A>G | ENSP00000436571.1:n.150-32043A>G | |
| ENST00000528488.5:c.281-31714A>G | ENSP00000436595.1:n.281-31714A>G | |
| ENST00000532633.5:c.*223-31714A>G | ENSP00000437259.1:n.*223-31714A>G | |
| ENST00000532840.5:n.327-32043A>G | ||
| ENST00000533124.5:n.295-3452A>G | ||
| ENST00000534249.5:c.66-32043A>G | ||
| NM_001003676.2:c.281-32043A>G | NP_001003676.1:n.281-32043A>G | |
| NM_001003677.2:c.281-32043A>G | NP_001003677.1:n.281-32043A>G | |
| NM_001003678.2:c.281-32043A>G | NP_001003678.1:n.281-32043A>G | |
| NM_001278222.1:c.254-32043A>G | NP_001265151.1:n.254-32043A>G | |
| NM_024113.4:c.281-32043A>G | NP_077018.1:n.281-32043A>G | |
| NR_103471.1:n.398-31714A>G | ||
| NR_103472.1:n.267-32043A>G | ||
| XM_006718315.1:c.281-32043A>G | XP_006718378.1:n.281-32043A>G | |
| XM_011520364.1:c.254-32043A>G | XP_011518666.1:n.254-32043A>G | |
| XM_011520365.1:c.281-32043A>G | XP_011518667.1:n.281-32043A>G | |
| XM_006718315.2:c.281-32043A>G | XP_006718378.1:n.281-32043A>G | |
| XM_011520364.2:c.254-32043A>G | XP_011518666.1:n.254-32043A>G | |
| XM_011520365.3:c.281-32043A>G | XP_011518667.1:n.281-32043A>G | |
| XM_017018276.2:c.281-32043A>G | XP_016873765.1:n.281-32043A>G | |
| XM_017018277.2:c.29-32043A>G | XP_016873766.1:n.29-32043A>G | |
| XM_017018278.1:c.-193-31714A>G | XP_016873767.1:n.-193-31714A>G | |
| XM_017018279.1:c.-256-31714A>G | XP_016873768.1:n.-256-31714A>G | |
| XM_017018280.1:c.-981-3452A>G | XP_016873769.1:n.-981-3452A>G | |
| XM_017018281.1:c.-981-3452A>G | XP_016873770.1:n.-981-3452A>G | |
| XM_017018282.1:c.-193-31714A>G | XP_016873771.1:n.-193-31714A>G | |
| NM_001003677.3:c.281-32043A>G | NP_001003677.1:n.281-32043A>G | |
| NM_001003678.3:c.281-32043A>G | NP_001003678.1:n.281-32043A>G | |
| NM_024113.5:c.281-32043A>G MANE Select | NP_077018.1:n.281-32043A>G | |
| NR_103471.2:n.326-31714A>G | ||
| NR_103472.2:n.195-32043A>G | ||
| NM_001003676.3:c.281-32043A>G | NP_001003676.1:n.281-32043A>G |