COSMIC:
COSM4133736 (not active)
Revel Score:
ENST00000432434
0.002
ENST00000295150 (MANE Select)
0.062
ENST00000415196
0.062
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3113833 (NFE)
Genomes Max Group AF
0.29860632 (NFE)
Exomes Max Group AF
0.31197925 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.24190429A>G , CM000664.2:g.24190429A>G | GRCh38 |
| NC_000002.11:g.24413298A>G , CM000664.1:g.24413298A>G | GRCh37 |
| NC_000002.10:g.24266802A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432434.2:c.536A>G | ENSP00000412833.2:p.Tyr179Cys | |
| ENST00000456591.6:c.*285A>G | ENSP00000401257.1:n.*285A>G | |
| ENST00000295150.8:c.419A>G MANE Select | ENSP00000295150.3:p.Tyr140Cys | |
| ENST00000295150.7:c.419A>G | ENSP00000295150.3:p.Tyr140Cys | |
| ENST00000415196.1:c.122A>G | ENSP00000416595.1:p.Tyr41Cys | |
| ENST00000432434.1:c.532A>G | ||
| ENST00000456591.5:c.*285A>G | ENSP00000401257.1:n.*285A>G | |
| ENST00000610442.1:c.*1546A>G | ENSP00000483650.1:n.*1546A>G | |
| NM_001040710.2:c.419A>G | NP_001035800.1:p.Tyr140Cys | |
| NM_001040710.3:c.419A>G MANE Select | NP_001035800.1:p.Tyr140Cys |