Revel Score:
ENST00000546054
0.929
ENST00000370225 (MANE Select)
0.929
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002074 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002083 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94029621A>G , CM000663.2:g.94029621A>G | GRCh38 |
| NC_000001.10:g.94495177A>G , CM000663.1:g.94495177A>G | GRCh37 |
| NC_000001.9:g.94267765A>G | NCBI36 |
| NG_009073.1:g.96529T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4363T>C MANE Select | ENSP00000359245.3:p.Cys1455Arg | |
| ENST00000370225.3:c.4363T>C | ENSP00000359245.3:p.Cys1455Arg | |
| ENST00000536513.5:c.739T>C | ENSP00000439707.2:p.Cys247Arg | |
| NM_000350.2:c.4363T>C | NP_000341.2:p.Cys1455Arg | |
| NM_000350.3:c.4363T>C MANE Select | NP_000341.2:p.Cys1455Arg |