Revel Score:
ENST00000545448
0.082
ENST00000260682 (MANE Select)
0.082
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01007616 (AFR)
Genomes Max Group AF
0.01032586 (AFR)
Exomes Max Group AF
0.00921329 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94981301C>G , CM000672.2:g.94981301C>G | GRCh38 |
| NC_000010.10:g.96741058C>G , CM000672.1:g.96741058C>G | GRCh37 |
| NC_000010.9:g.96731048C>G | NCBI36 |
| NG_008385.1:g.47644C>G | |
| NG_008385.2:g.48144C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1080C>G MANE Select | ENSP00000260682.6:p.Asp360Glu | |
| ENST00000643112.1:c.*89C>G | ENSP00000496202.1:n.*89C>G | |
| ENST00000260682.6:c.1080C>G | ENSP00000260682.6:p.Asp360Glu | |
| NM_000771.3:c.1080C>G | NP_000762.2:p.Asp360Glu | |
| NM_000771.4:c.1080C>G MANE Select | NP_000762.2:p.Asp360Glu |