COSMIC:
COSM1180448 (not active)
COSM1180449 (not active)
Revel Score:
ENST00000315585
0.311
ENST00000443047
0.311
ENST00000450056 (MANE Select)
0.311
ENST00000266880
0.311
ENST00000537522
0.311
ENST00000541228
0.311
ENST00000432561
0.311
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.38676526 (MID)
Genomes Max Group AF
0.36072311 (SAS)
Exomes Max Group AF
0.38534467 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132851656G>A , CM000674.2:g.132851656G>A | GRCh38 |
| NC_000012.11:g.133428242G>A , CM000674.1:g.133428242G>A | GRCh37 |
| NC_000012.10:g.131938315G>A | NCBI36 |
| NG_033999.1:g.40963C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450056.7:c.1454C>T MANE Select | ENSP00000398735.2:p.Ala485Val | |
| ENST00000266880.11:c.1367C>T | ENSP00000266880.8:p.Ala456Val | |
| ENST00000315585.11:c.890C>T | ENSP00000320557.8:p.Ala297Val | |
| ENST00000432561.6:c.1490C>T | ENSP00000392395.2:p.Ala497Val | |
| ENST00000443047.6:c.1214C>T | ENSP00000416431.2:p.Ala405Val | |
| ENST00000450056.6:c.1454C>T | ENSP00000398735.2:p.Ala485Val | |
| ENST00000535527.5:c.99-2932C>T | ENSP00000478791.1:n.99-2932C>T | |
| ENST00000538235.2:n.59+1775C>T | ||
| ENST00000544093.5:c.3C>T | ||
| ENST00000544268.5:n.753C>T | ||
| NM_001161344.1:c.1490C>T | NP_001154816.1:p.Ala497Val | |
| NM_001161345.1:c.1487C>T | NP_001154817.1:p.Ala496Val | |
| NM_001161346.1:c.1454C>T | NP_001154818.1:p.Ala485Val | |
| NM_001161347.1:c.1214C>T | NP_001154819.1:p.Ala405Val | |
| NM_018223.2:c.1367C>T | NP_060693.2:p.Ala456Val | |
| NM_001161346.2:c.1454C>T MANE Select | NP_001154818.1:p.Ala485Val |