ClinVar Variation:
COSMIC:
COSM3759168
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43549848 (NFE)
Genomes Max Group AF
0.42982964 (NFE)
Exomes Max Group AF
0.43562283 (NFE)
Revel Score:
ENST00000447922
0.045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37135396G>A , CM000684.2:g.37135396G>A | GRCh38 |
| NC_000022.10:g.37531436G>A , CM000684.1:g.37531436G>A | GRCh37 |
| NC_000022.9:g.35861382G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429622.6:c.750C>T | ENSP00000402685.2:p.Gly250= | |
| ENST00000445595.2:c.750C>T | ENSP00000401020.2:p.Gly250= | |
| ENST00000453962.6:c.750C>T | ENSP00000403731.2:p.Gly250= | |
| ENST00000698883.1:c.750C>T | ENSP00000514005.1:p.Gly250= | |
| ENST00000698890.1:c.750C>T | ENSP00000514009.1:p.Gly250= | |
| ENST00000698891.1:c.*742C>T | ENSP00000514010.1:n.*742C>T | |
| ENST00000698892.1:c.750C>T | ENSP00000514011.1:p.Gly250= | |
| ENST00000698893.1:c.750C>T | ENSP00000514012.1:p.Gly250= | |
| ENST00000698894.1:c.768C>T | ENSP00000514013.1:p.Gly256= | |
| ENST00000698895.1:c.*550C>T | ENSP00000514014.1:n.*550C>T | |
| ENST00000698896.1:c.*509C>T | ENSP00000514015.1:n.*509C>T | |
| ENST00000698902.1:c.747C>T | ENSP00000514017.1:p.Gly249= | |
| ENST00000698903.1:c.750C>T | ENSP00000514018.1:p.Gly250= | |
| ENST00000698904.1:c.723C>T | ENSP00000514019.1:p.Gly241= | |
| ENST00000698905.1:c.750C>T | ENSP00000514020.1:p.Gly250= | |
| ENST00000703410.1:c.750C>T | ENSP00000516411.1:p.Gly250= | |
| ENST00000216223.10:c.750C>T MANE Select | ENSP00000216223.5:p.Gly250= | |
| ENST00000216223.9:c.750C>T | ENSP00000216223.5:p.Gly250= | |
| ENST00000483573.1:n.228C>T | ||
| NM_000878.3:c.750C>T | NP_000869.1:p.Gly250= | |
| NM_000878.4:c.750C>T | NP_000869.1:p.Gly250= | |
| NM_001346222.1:c.750C>T | NP_001333151.1:p.Gly250= | |
| NM_001346223.1:c.750C>T | NP_001333152.1:p.Gly250= | |
| NM_000878.5:c.750C>T MANE Select | NP_000869.1:p.Gly250= | |
| NM_001346223.2:c.750C>T | NP_001333152.1:p.Gly250= |