COSMIC:
COSM3746694 (not active)
COSM3746695 (not active)
Revel Score:
ENST00000361641
0.094
ENST00000533373
0.094
ENST00000423085
0.094
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.45512861 (EAS)
Genomes Max Group AF
0.45765379 (EAS)
Exomes Max Group AF
0.45312259 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.184054395A>C , CM000663.2:g.184054395A>C | GRCh38 |
| NC_000001.10:g.184023529A>C , CM000663.1:g.184023529A>C | GRCh37 |
| NC_000001.9:g.182290152A>C | NCBI36 |
| NG_050569.1:g.7745A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361641.6:c.177A>C | ENSP00000355299.2:p.Gln59His | |
| ENST00000367518.4:n.215A>C | ||
| ENST00000423085.7:c.177A>C | ENSP00000402002.2:p.Gln59His | |
| ENST00000462677.3:c.177A>C | ENSP00000432397.2:p.Gln59His | |
| ENST00000485209.6:c.177A>C | ENSP00000435144.1:p.Gln59His | |
| ENST00000533373.6:c.177A>C | ENSP00000436996.1:p.Gln59His | |
| ENST00000643231.1:c.177A>C | ENSP00000494932.1:p.Gln59His | |
| ENST00000643702.1:c.139A>C | ||
| ENST00000643916.1:c.136-333A>C | ENSP00000494533.1:n.136-333A>C | |
| ENST00000644145.1:c.*29A>C | ENSP00000494455.1:n.*29A>C | |
| ENST00000644479.1:c.177A>C | ENSP00000496242.1:p.Gln59His | |
| ENST00000644592.1:c.177A>C | ENSP00000495621.1:p.Gln59His | |
| ENST00000644815.1:c.68A>C | ||
| ENST00000645668.2:c.177A>C MANE Select | ENSP00000493902.2:p.Gln59His | |
| ENST00000645963.2:c.177A>C | ENSP00000495409.2:p.Gln59His | |
| ENST00000646297.2:c.177A>C | ENSP00000496688.2:p.Gln59His | |
| ENST00000647437.1:c.177A>C | ENSP00000495178.1:p.Gln59His | |
| ENST00000647465.1:c.177A>C | ENSP00000495344.1:p.Gln59His | |
| ENST00000361641.5:c.177A>C | ENSP00000355299.1:p.Gln59His | |
| ENST00000367518.3:n.200A>C | ||
| ENST00000423085.6:c.177A>C | ENSP00000402002.2:p.Gln59His | |
| ENST00000457455.1:n.35A>C | ||
| ENST00000462677.2:c.173A>C | ||
| ENST00000485209.5:c.177A>C | ENSP00000435144.1:p.Gln59His | |
| ENST00000533373.5:c.177A>C | ENSP00000436996.1:p.Gln59His | |
| NM_001127394.3:c.177A>C | NP_001120866.1:p.Gln59His | |
| NM_001300764.1:c.177A>C | NP_001287693.1:p.Gln59His | |
| NM_001300766.1:c.177A>C | NP_001287695.1:p.Gln59His | |
| NM_052965.3:c.177A>C | NP_443197.1:p.Gln59His | |
| NR_023349.2:n.282A>C | ||
| NR_125335.1:n.282A>C | ||
| XM_006711148.1:c.177A>C | XP_006711211.1:p.Gln59His | |
| XM_011509139.1:c.177A>C | XP_011507441.1:p.Gln59His | |
| NM_001363643.1:c.177A>C | NP_001350572.1:p.Gln59His | |
| XM_006711148.2:c.177A>C | XP_006711211.1:p.Gln59His | |
| XM_011509139.3:c.177A>C | XP_011507441.1:p.Gln59His | |
| XM_017000228.2:c.177A>C | XP_016855717.1:p.Gln59His | |
| XM_017000229.2:c.177A>C | XP_016855718.1:p.Gln59His | |
| XM_017000230.2:c.177A>C | XP_016855719.1:p.Gln59His | |
| NM_001127394.4:c.177A>C | NP_001120866.1:p.Gln59His | |
| NM_001300764.2:c.177A>C | NP_001287693.1:p.Gln59His | |
| NM_001300766.2:c.177A>C | NP_001287695.1:p.Gln59His | |
| NM_001363643.2:c.177A>C | NP_001350572.1:p.Gln59His | |
| NM_052965.4:c.177A>C MANE Select | NP_443197.1:p.Gln59His | |
| NR_023349.3:n.203A>C | ||
| NR_125335.2:n.203A>C |