Revel Score:
ENST00000503569
0.817
ENST00000226760 (MANE Select)
0.817
ENST00000540337
0.817
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00155419 (AMR)
Genomes Max Group AF
0.0005049 (EAS)
Exomes Max Group AF
0.00196313 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301752C>T , CM000666.2:g.6301752C>T | GRCh38 |
| NC_000004.11:g.6303479C>T , CM000666.1:g.6303479C>T | GRCh37 |
| NC_000004.10:g.6354380C>T | NCBI36 |
| NG_011700.1:g.36903C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1993C>T | ENSP00000507852.1:p.Arg665Cys | |
| ENST00000683395.1:c.1934C>T | ||
| ENST00000684087.1:c.1957C>T | ENSP00000506978.1:p.Arg653Cys | |
| ENST00000506362.2:c.1708C>T | ENSP00000424103.2:p.Arg570Cys | |
| ENST00000673642.1:c.1616C>T | ENSP00000501242.1:n.1616C>T | |
| ENST00000673991.1:c.1993C>T | ENSP00000501033.1:p.Arg665Cys | |
| ENST00000226760.5:c.1957C>T MANE Select | ENSP00000226760.1:p.Arg653Cys | |
| ENST00000503569.5:c.1957C>T | ENSP00000423337.1:p.Arg653Cys | |
| ENST00000507765.1:n.2142C>T | ||
| NM_001145853.1:c.1957C>T | NP_001139325.1:p.Arg653Cys | |
| NM_006005.3:c.1957C>T MANE Select | NP_005996.2:p.Arg653Cys | |
| XM_017008586.1:c.1966C>T | XP_016864075.1:p.Arg656Cys |