COSMIC:
COSM4986902 (not active)
Revel Score:
ENST00000340189
0.204
ENST00000341724
0.204
ENST00000372004
0.204
ENST00000371998 (MANE Select)
0.204
ENST00000371997
0.204
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.09086101 (MID)
Genomes Max Group AF
0.06731415 (AFR)
Exomes Max Group AF
0.09164161 (MID)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.47627680C>T , CM000682.2:g.47627680C>T | GRCh38 |
| NC_000020.10:g.46256424C>T , CM000682.1:g.46256424C>T | GRCh37 |
| NC_000020.9:g.45689831C>T | NCBI36 |
| NG_016810.1:g.130824C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371998.8:c.652C>T MANE Select | ENSP00000361066.3:p.Arg218Cys | |
| ENST00000371997.3:c.652C>T | ENSP00000361065.3:p.Arg218Cys | |
| ENST00000371998.7:c.652C>T | ENSP00000361066.3:p.Arg218Cys | |
| ENST00000372004.7:c.652C>T | ENSP00000361073.1:p.Arg218Cys | |
| ENST00000497292.1:n.295C>T | ||
| NM_001174087.1:c.652C>T | NP_001167558.1:p.Arg218Cys | |
| NM_001174088.1:c.652C>T | NP_001167559.1:p.Arg218Cys | |
| NM_006534.3:c.652C>T | NP_006525.2:p.Arg218Cys | |
| NM_181659.2:c.652C>T | NP_858045.1:p.Arg218Cys | |
| NM_181659.3:c.652C>T MANE Select | NP_858045.1:p.Arg218Cys | |
| NM_001174087.2:c.652C>T | NP_001167558.1:p.Arg218Cys | |
| NM_001174088.2:c.652C>T | NP_001167559.1:p.Arg218Cys | |
| NM_006534.4:c.652C>T | NP_006525.2:p.Arg218Cys |