Revel Score:
ENST00000273654
0.161
ENST00000442201
0.161
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00723555 (AFR)
Genomes Max Group AF
0.00710203 (AFR)
Exomes Max Group AF
0.00692434 (AFR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.180648329C>A , CM000665.2:g.180648329C>A | GRCh38 |
| NC_000003.11:g.180366117C>A , CM000665.1:g.180366117C>A | GRCh37 |
| NC_000003.10:g.181848811C>A | NCBI36 |
| NG_029581.1:g.36167G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476379.6:c.1198G>T MANE Select | ENSP00000417960.2:p.Gly400Cys | |
| ENST00000650641.1:n.1085G>T | ||
| ENST00000650889.1:n.1589G>T | ||
| ENST00000651046.1:c.1006G>T | ENSP00000499175.1:p.Gly336Cys | |
| ENST00000651818.1:n.1148G>T | ||
| ENST00000651922.1:n.523G>T | ||
| ENST00000652024.1:n.1097G>T | ||
| ENST00000652408.1:n.1335G>T | ||
| ENST00000442201.6:c.1198G>T | ENSP00000405708.2:p.Gly400Cys | |
| ENST00000476379.5:c.1198G>T | ENSP00000417960.1:p.Gly400Cys | |
| NM_181426.1:c.1198G>T | NP_852091.1:p.Gly400Cys | |
| NM_181426.2:c.1198G>T MANE Select | NP_852091.1:p.Gly400Cys |