Revel Score:
ENST00000375715
0.628
ENST00000375708 (MANE Select)
0.628
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00458119 (EAS)
Genomes Max Group AF
0.00208959 (EAS)
Exomes Max Group AF
0.00477491 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724282G>A , CM000671.2:g.91724282G>A | GRCh38 |
| NC_000009.11:g.94486564G>A , CM000671.1:g.94486564G>A | GRCh37 |
| NC_000009.10:g.93526385G>A | NCBI36 |
| NG_008089.1:g.230881C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2212C>T MANE Select | ENSP00000364860.3:p.Arg738Cys | |
| ENST00000375708.3:c.2212C>T | ENSP00000364860.3:p.Arg738Cys | |
| ENST00000375715.5:c.1792C>T | ENSP00000364867.1:p.Arg598Cys | |
| ENST00000550066.5:n.2680C>T | ||
| NM_004560.3:c.2212C>T | NP_004551.2:p.Arg738Cys | |
| XM_005252008.3:c.1792C>T | XP_005252065.1:p.Arg598Cys | |
| XM_005252009.3:c.1009C>T | XP_005252066.1:p.Arg337Cys | |
| XM_006717121.2:c.1792C>T | XP_006717184.1:p.Arg598Cys | |
| XM_011518721.1:c.1792C>T | XP_011517023.1:p.Arg598Cys | |
| XM_005252008.4:c.1792C>T | XP_005252065.1:p.Arg598Cys | |
| XM_006717121.3:c.1792C>T | XP_006717184.1:p.Arg598Cys | |
| XM_017014762.1:c.2203C>T | XP_016870251.1:p.Arg735Cys | |
| XM_017014763.1:c.1792C>T | XP_016870252.1:p.Arg598Cys | |
| NM_004560.4:c.2212C>T MANE Select | NP_004551.2:p.Arg738Cys |