Revel Score:
ENST00000367409 (MANE Select)
0.020
ENST00000294732
0.020
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.01699913 (EAS)
Genomes Max Group AF
0.01708942 (EAS)
Exomes Max Group AF
0.01665705 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197143347C>T , CM000663.2:g.197143347C>T | GRCh38 |
| NC_000001.10:g.197112477C>T , CM000663.1:g.197112477C>T | GRCh37 |
| NC_000001.9:g.195379100C>T | NCBI36 |
| NG_015867.1:g.8348G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367409.9:c.905G>A MANE Select | ENSP00000356379.4:p.Cys302Tyr | |
| ENST00000679766.1:n.1122G>A | ||
| ENST00000680265.1:c.905G>A | ENSP00000505384.1:p.Cys302Tyr | |
| ENST00000680710.1:c.905G>A | ENSP00000506676.1:p.Cys302Tyr | |
| ENST00000681879.1:c.905G>A | ENSP00000505363.1:p.Cys302Tyr | |
| ENST00000294732.11:c.905G>A | ENSP00000294732.7:p.Cys302Tyr | |
| ENST00000367409.8:c.905G>A | ENSP00000356379.4:p.Cys302Tyr | |
| ENST00000612785.1:c.561+344G>A | ENSP00000479244.1:n.561+344G>A | |
| NM_001206846.1:c.905G>A | NP_001193775.1:p.Cys302Tyr | |
| NM_018136.4:c.905G>A | NP_060606.3:p.Cys302Tyr | |
| NM_018136.5:c.905G>A MANE Select | NP_060606.3:p.Cys302Tyr | |
| NM_001206846.2:c.905G>A | NP_001193775.1:p.Cys302Tyr |