ClinVar Variation:
COSMIC:
COSM423522
COSM1472446
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.12485066 (NFE)
Genomes Max Group AF
0.13000756 (NFE)
Exomes Max Group AF
0.12440904 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114693436G>A , CM000663.2:g.114693436G>A | GRCh38 |
| NC_000001.10:g.115236057G>A , CM000663.1:g.115236057G>A | GRCh37 |
| NC_000001.9:g.115037580G>A | NCBI36 |
| NG_008012.1:g.7120C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.22+2014C>T | ENSP00000358551.4:n.22+2014C>T | |
| ENST00000520113.7:c.34C>T MANE Select | ENSP00000430075.3:p.Gln12Ter | |
| ENST00000637080.1:c.37+2001C>T | ENSP00000489753.1:n.37+2001C>T | |
| ENST00000369538.3:c.121+2014C>T | ENSP00000358551.3:n.121+2014C>T | |
| ENST00000520113.6:c.133C>T | ENSP00000430075.2:p.Gln45Ter | |
| NM_000036.2:c.133C>T | NP_000027.2:p.Gln45Ter | |
| NM_001172626.1:c.121+2014C>T | NP_001166097.1:n.121+2014C>T | |
| NM_000036.3:c.34C>T MANE Select | NP_000027.3:p.Gln12Ter | |
| NM_001172626.2:c.22+2014C>T | NP_001166097.2:n.22+2014C>T |