COSMIC:
COSM148316 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.67850568 (MID)
Genomes Max Group AF
0.66561722 (AFR)
Exomes Max Group AF
0.67629206 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63930138A>G , CM000679.2:g.63930138A>G | GRCh38 |
| NC_000017.10:g.62007498A>G , CM000679.1:g.62007498A>G | GRCh37 |
| NC_000017.9:g.59361230A>G | NCBI36 |
| NG_007368.1:g.7207T>C , LRG_43:g.7207T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698624.1:n.363T>C | ||
| ENST00000006750.8:c.366T>C MANE Select | ENSP00000006750.4:p.Cys122= | |
| ENST00000647774.1:c.52-250T>C | ||
| ENST00000006750.7:c.366T>C | ENSP00000006750.3:p.Cys122= | |
| ENST00000349817.2:c.119-250T>C | ENSP00000245862.2:n.119-250T>C | |
| ENST00000392795.7:c.369T>C | ENSP00000376544.3:p.Cys123= | |
| ENST00000559358.1:n.377T>C | ||
| NM_000626.2:c.366T>C | NP_000617.1:p.Cys122= | |
| NM_001039933.1:c.369T>C , LRG_43t1:c.369T>C | NP_001035022.1:p.Cys123= | |
| NM_021602.2:c.119-250T>C | NP_067613.1:n.119-250T>C | |
| XM_005257858.3:c.122-250T>C | XP_005257915.1:n.122-250T>C | |
| NM_000626.3:c.366T>C | NP_000617.1:p.Cys122= | |
| NM_001039933.2:c.369T>C | NP_001035022.1:p.Cys123= | |
| NM_001329050.1:c.122-250T>C | NP_001315979.1:n.122-250T>C | |
| NM_021602.3:c.119-250T>C | NP_067613.1:n.119-250T>C | |
| NM_000626.4:c.366T>C MANE Select | NP_000617.1:p.Cys122= | |
| NM_001039933.3:c.369T>C | NP_001035022.1:p.Cys123= | |
| NM_001329050.2:c.122-250T>C | NP_001315979.1:n.122-250T>C | |
| NM_021602.4:c.119-250T>C | NP_067613.1:n.119-250T>C |