Revel Score:
ENST00000302118 (MANE Select)
0.546
ENST00000452118
0.546
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00007227 (AFR)
Genomes Max Group AF
0.00006281 (AFR)
Exomes Max Group AF
0.00003982 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55043945C>T , CM000663.2:g.55043945C>T | GRCh38 |
| NC_000001.10:g.55509618C>T , CM000663.1:g.55509618C>T | GRCh37 |
| NC_000001.9:g.55282206C>T | NCBI36 |
| NG_009061.1:g.9399C>T , LRG_275:g.9399C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.310C>T | ENSP00000501161.2:p.Arg104Cys | |
| ENST00000710286.1:c.667C>T | ENSP00000518176.1:p.Arg223Cys | |
| ENST00000673726.1:c.310C>T | ENSP00000501004.1:p.Arg104Cys | |
| ENST00000673903.1:c.-66C>T | ENSP00000501257.1:n.-66C>T | |
| ENST00000302118.5:c.310C>T MANE Select | ENSP00000303208.5:p.Arg104Cys | |
| NM_174936.3:c.310C>T , LRG_275t1:c.310C>T | NP_777596.2:p.Arg104Cys | |
| NR_110451.1:n.182+3542C>T | ||
| NM_174936.4:c.310C>T MANE Select | NP_777596.2:p.Arg104Cys | |
| NR_110451.2:n.182+3542C>T |