COSMIC:
COSM3762118 (not active)
Revel Score:
ENST00000371175 (MANE Select)
0.301
ENST00000229810
0.301
ENST00000418071
0.301
ENST00000539403
0.301
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09566721 (SAS)
Genomes Max Group AF
0.0983399 (SAS)
Exomes Max Group AF
0.09514562 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49612534C>T , CM000668.2:g.49612534C>T | GRCh38 |
| NC_000006.11:g.49580247C>T , CM000668.1:g.49580247C>T | GRCh37 |
| NC_000006.10:g.49688206C>T | NCBI36 |
| NG_011704.1:g.29341G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.808G>A MANE Select | ENSP00000360217.4:p.Val270Ile | |
| ENST00000646272.1:c.808G>A | ENSP00000494337.1:p.Val270Ile | |
| ENST00000646874.1:n.498G>A | ||
| ENST00000646939.1:c.808G>A | ENSP00000494709.1:p.Val270Ile | |
| ENST00000646963.1:c.808G>A | ENSP00000495337.1:p.Val270Ile | |
| ENST00000229810.9:c.808G>A | ENSP00000229810.8:p.Val270Ile | |
| ENST00000371175.8:c.808G>A | ENSP00000360217.4:p.Val270Ile | |
| ENST00000618248.3:c.808G>A | ENSP00000482984.1:p.Val270Ile | |
| NM_000324.2:c.808G>A | NP_000315.2:p.Val270Ile | |
| NM_000324.3:c.808G>A MANE Select | NP_000315.2:p.Val270Ile |