Revel Score:
ENST00000247182
0.946
gnomAD v2:
gnomAD v4:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60648804T>C , CM000676.2:g.60648804T>C | GRCh38 |
| NC_000014.8:g.61115522T>C , CM000676.1:g.61115522T>C | GRCh37 |
| NC_000014.7:g.60185275T>C | NCBI36 |
| NG_008231.1:g.5634A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000645694.3:c.386A>G MANE Select | ENSP00000494686.1:p.Tyr129Cys | |
| ENST00000247182.6:c.386A>G | ENSP00000247182.5:p.Tyr129Cys | |
| ENST00000553535.2:n.249-2227A>G | ||
| ENST00000554986.2:c.42-2227A>G | ENSP00000452700.2:n.42-2227A>G | |
| ENST00000555955.3:n.1198-2227A>G | ||
| NM_005982.3:c.386A>G | NP_005973.1:p.Tyr129Cys | |
| XM_017021602.2:c.386A>G | XP_016877091.1:p.Tyr129Cys | |
| NM_005982.4:c.386A>G MANE Select | NP_005973.1:p.Tyr129Cys |