Revel Score:
ENST00000503569
0.897
ENST00000226760 (MANE Select)
0.897
ENST00000540337
0.897
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008833 (EAS)
Genomes Max Group AF
0.00013492 (NFE)
Exomes Max Group AF
0.00009929 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301917C>T , CM000666.2:g.6301917C>T | GRCh38 |
| NC_000004.11:g.6303644C>T , CM000666.1:g.6303644C>T | GRCh37 |
| NC_000004.10:g.6354545C>T | NCBI36 |
| NG_011700.1:g.37068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2158C>T | ENSP00000507852.1:p.Arg720Cys | |
| ENST00000683395.1:c.2099C>T | ||
| ENST00000684087.1:c.2122C>T | ENSP00000506978.1:p.Arg708Cys | |
| ENST00000506362.2:c.1873C>T | ENSP00000424103.2:p.Arg625Cys | |
| ENST00000673642.1:c.1781C>T | ENSP00000501242.1:n.1781C>T | |
| ENST00000673991.1:c.2158C>T | ENSP00000501033.1:p.Arg720Cys | |
| ENST00000226760.5:c.2122C>T MANE Select | ENSP00000226760.1:p.Arg708Cys | |
| ENST00000503569.5:c.2122C>T | ENSP00000423337.1:p.Arg708Cys | |
| ENST00000507765.1:n.2307C>T | ||
| NM_001145853.1:c.2122C>T | NP_001139325.1:p.Arg708Cys | |
| NM_006005.3:c.2122C>T MANE Select | NP_005996.2:p.Arg708Cys | |
| XM_017008586.1:c.2131C>T | XP_016864075.1:p.Arg711Cys |