COSMIC:
COSM4987349 (not active)
COSM4987350 (not active)
Revel Score:
ENST00000371270 (MANE Select)
0.362
ENST00000535868
0.362
ENST00000535898
0.362
ENST00000539050
0.362
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.05222582 (NFE)
Genomes Max Group AF
0.05071172 (NFE)
Exomes Max Group AF
0.0522415 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95058362G>C , CM000672.2:g.95058362G>C | GRCh38 |
| NC_000010.10:g.96818119G>C , CM000672.1:g.96818119G>C | GRCh37 |
| NC_000010.9:g.96808109G>C | NCBI36 |
| NG_007972.1:g.16136C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.792C>G MANE Select | ENSP00000360317.3:p.Ile264Met | |
| ENST00000371270.5:c.792C>G | ENSP00000360317.3:p.Ile264Met | |
| ENST00000479946.2:n.1096C>G | ||
| ENST00000490994.6:c.*578C>G | ENSP00000433314.1:n.*578C>G | |
| ENST00000525991.5:c.*367C>G | ENSP00000433842.1:n.*367C>G | |
| ENST00000526814.5:n.1047C>G | ||
| ENST00000527420.5:c.792C>G | ENSP00000433191.1:p.Ile264Met | |
| ENST00000527953.5:n.1047C>G | ||
| ENST00000533320.5:n.1026C>G | ||
| ENST00000535898.5:c.486C>G | ENSP00000445062.1:p.Ile162Met | |
| ENST00000539050.5:c.582C>G | ENSP00000442343.2:p.Ile194Met | |
| ENST00000623108.3:c.582C>G | ENSP00000485110.1:p.Ile194Met | |
| ENST00000628935.1:c.534C>G | ENSP00000487145.1:p.Ile178Met | |
| NM_000770.3:c.792C>G MANE Select | NP_000761.3:p.Ile264Met | |
| NM_001198853.1:c.582C>G | NP_001185782.1:p.Ile194Met | |
| NM_001198854.1:c.486C>G | NP_001185783.1:p.Ile162Met | |
| NM_001198855.1:c.582C>G | NP_001185784.1:p.Ile194Met | |
| XR_945610.1:n.888C>G |