gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.31393551 (NFE)
Genomes Max Group AF
0.31393551 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.16850893G>A , CM000673.2:g.16850893G>A | GRCh38 |
| NC_000011.9:g.16872440G>A , CM000673.1:g.16872440G>A | GRCh37 |
| NC_000011.8:g.16829016G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696749.1:c.567+298C>T | ENSP00000512848.1:n.567+298C>T | |
| ENST00000698836.1:c.696+298C>T | ENSP00000513972.1:n.696+298C>T | |
| ENST00000531066.6:c.696+298C>T MANE Select | ENSP00000435389.1:n.696+298C>T | |
| ENST00000637162.1:c.391+298C>T | ||
| ENST00000355661.7:c.696+298C>T | ENSP00000347883.2:n.696+298C>T | |
| ENST00000531066.5:c.696+298C>T | ENSP00000435389.1:n.696+298C>T | |
| ENST00000532079.1:c.82-61024C>T | ENSP00000434812.1:n.82-61024C>T | |
| NM_175058.4:c.696+298C>T | NP_778228.3:n.696+298C>T | |
| XM_006718149.2:c.696+298C>T | XP_006718212.1:n.696+298C>T | |
| XM_011519910.1:c.558+298C>T | XP_011518212.1:n.558+298C>T | |
| XM_011519911.1:c.522+298C>T | XP_011518213.1:n.522+298C>T | |
| XM_011519912.1:c.492+298C>T | XP_011518214.1:n.492+298C>T | |
| XM_011519913.1:c.642+298C>T | XP_011518215.1:n.642+298C>T | |
| XM_011519914.1:c.696+298C>T | XP_011518216.1:n.696+298C>T | |
| XM_011519915.1:c.414+298C>T | XP_011518217.1:n.414+298C>T | |
| XM_011519916.1:c.642+298C>T | XP_011518218.1:n.642+298C>T | |
| XM_011519917.1:c.-16+298C>T | XP_011518219.1:n.-16+298C>T | |
| NM_001329630.1:c.696+298C>T | NP_001316559.1:n.696+298C>T | |
| NM_001329631.1:c.696+298C>T | NP_001316560.1:n.696+298C>T | |
| XM_017017241.2:c.696+298C>T | XP_016872730.1:n.696+298C>T | |
| XM_017017242.2:c.696+298C>T | XP_016872731.1:n.696+298C>T | |
| XM_024448356.1:c.696+298C>T | XP_024304124.1:n.696+298C>T | |
| XM_024448357.1:c.696+298C>T | XP_024304125.1:n.696+298C>T | |
| XM_024448358.1:c.696+298C>T | XP_024304126.1:n.696+298C>T | |
| XM_024448359.1:c.696+298C>T | XP_024304127.1:n.696+298C>T | |
| XM_024448360.1:c.696+298C>T | XP_024304128.1:n.696+298C>T | |
| XM_024448361.1:c.558+298C>T | XP_024304129.1:n.558+298C>T | |
| XM_024448362.1:c.522+298C>T | XP_024304130.1:n.522+298C>T | |
| XM_024448363.1:c.696+298C>T | XP_024304131.1:n.696+298C>T | |
| XM_024448364.1:c.696+298C>T | XP_024304132.1:n.696+298C>T | |
| XM_024448365.1:c.414+298C>T | XP_024304133.1:n.414+298C>T | |
| XM_024448366.1:c.378+298C>T | XP_024304134.1:n.378+298C>T | |
| XM_024448367.1:c.378+298C>T | XP_024304135.1:n.378+298C>T | |
| XM_024448368.1:c.378+298C>T | XP_024304136.1:n.378+298C>T | |
| XM_024448369.1:c.378+298C>T | XP_024304137.1:n.378+298C>T | |
| XM_024448370.1:c.696+298C>T | XP_024304138.1:n.696+298C>T | |
| XR_002957126.1:n.718+298C>T | ||
| NM_001329630.2:c.696+298C>T MANE Select | NP_001316559.1:n.696+298C>T | |
| NM_001329631.2:c.696+298C>T | NP_001316560.1:n.696+298C>T | |
| NM_175058.5:c.696+298C>T | NP_778228.3:n.696+298C>T |