COSMIC:
COSM4985797 (not active)
Revel Score:
ENST00000353866
0.302
ENST00000434157
0.302
ENST00000393915 (MANE Select)
0.302
ENST00000426586
0.302
ENST00000432118
0.302
ENST00000358715
0.302
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.11961618 (MID)
Genomes Max Group AF
0.11608486 (NFE)
Exomes Max Group AF
0.11949136 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.163469644C>T , CM000667.2:g.163469644C>T | GRCh38 |
| NC_000005.9:g.162896650C>T , CM000667.1:g.162896650C>T | GRCh37 |
| NC_000005.8:g.162829228C>T | NCBI36 |
| NG_023309.1:g.14134C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393915.9:c.277C>T MANE Select | ENSP00000377492.4:p.Arg93Cys | |
| ENST00000353866.7:c.229C>T | ENSP00000185942.6:p.Arg77Cys | |
| ENST00000358715.3:c.274C>T | ENSP00000351554.3:p.Arg92Cys | |
| ENST00000393915.8:c.277C>T | ENSP00000377492.4:p.Arg93Cys | |
| ENST00000432118.6:c.16C>T | ENSP00000402673.2:p.Arg6Cys | |
| ENST00000517936.1:n.262C>T | ||
| ENST00000520345.5:c.-69C>T | ENSP00000428481.1:n.-69C>T | |
| ENST00000522094.5:c.-69C>T | ENSP00000428406.1:n.-69C>T | |
| NM_001142556.1:c.277C>T | NP_001136028.1:p.Arg93Cys | |
| NM_001142557.1:c.16C>T | NP_001136029.1:p.Arg6Cys | |
| NM_012484.2:c.274C>T | NP_036616.2:p.Arg92Cys | |
| NM_012485.2:c.229C>T | NP_036617.2:p.Arg77Cys | |
| NM_001142556.2:c.277C>T MANE Select | NP_001136028.1:p.Arg93Cys | |
| NM_001142557.2:c.16C>T | NP_001136029.1:p.Arg6Cys | |
| NM_012484.3:c.274C>T | NP_036616.2:p.Arg92Cys | |
| NM_012485.3:c.229C>T | NP_036617.2:p.Arg77Cys |