COSMIC:
COSM3759203 (not active)
Revel Score:
ENST00000404241
0.149
ENST00000337304
0.149
ENST00000396680
0.149
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.34052385 (SAS)
Genomes Max Group AF
0.32430638 (SAS)
Exomes Max Group AF
0.34075664 (SAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.39521510A>C , CM000684.2:g.39521510A>C | GRCh38 |
| NC_000022.10:g.39917515A>C , CM000684.1:g.39917515A>C | GRCh37 |
| NC_000022.9:g.38247461A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000674920.3:c.65A>C MANE Select | ENSP00000501863.1:p.Gln22Pro | |
| ENST00000396680.3:c.65A>C | ENSP00000379912.1:p.Gln22Pro | |
| ENST00000674568.2:c.65A>C | ENSP00000501783.2:p.Gln22Pro | |
| ENST00000674835.2:c.65A>C | ENSP00000502610.2:p.Gln22Pro | |
| ENST00000674920.2:c.65A>C | ENSP00000501863.1:p.Gln22Pro | |
| ENST00000675582.2:c.30+35A>C | ENSP00000502056.2:n.30+35A>C | |
| ENST00000676346.2:c.65A>C | ENSP00000502400.2:p.Gln22Pro | |
| ENST00000676430.1:c.162A>C | ENSP00000501638.1:p.Pro54= | |
| ENST00000679776.1:c.65A>C | ENSP00000505360.1:p.Gln22Pro | |
| ENST00000680446.1:c.-26-263A>C | ENSP00000506657.1:n.-26-263A>C | |
| ENST00000680748.1:c.65A>C | ENSP00000506141.1:p.Gln22Pro | |
| ENST00000337304.2:c.65A>C | ENSP00000336790.2:p.Gln22Pro | |
| ENST00000396680.2:c.65A>C | ENSP00000379912.1:p.Gln22Pro | |
| ENST00000404241.6:c.65A>C | ENSP00000384587.2:p.Gln22Pro | |
| NM_001675.4:c.65A>C | NP_001666.2:p.Gln22Pro | |
| NM_182810.2:c.65A>C | NP_877962.1:p.Gln22Pro | |
| XM_017028807.2:c.65A>C | XP_016884296.1:p.Gln22Pro | |
| NM_182810.3:c.65A>C MANE Select | NP_877962.1:p.Gln22Pro |