Revel Score:
ENST00000239165 (MANE Select)
0.937
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.48608021T>C , CM000679.2:g.48608021T>C | GRCh38 |
| NC_000017.10:g.46685383T>C , CM000679.1:g.46685383T>C | GRCh37 |
| NC_000017.9:g.44040382T>C | NCBI36 |
| NG_046953.1:g.1972A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000239165.9:c.475A>G MANE Select | ENSP00000239165.7:p.Asn159Asp | |
| ENST00000239165.8:c.475A>G | ENSP00000239165.7:p.Asn159Asp | |
| ENST00000467314.1:n.173A>G | ||
| ENST00000567101.2:n.134A>G | ||
| NM_004502.3:c.475A>G | NP_004493.3:p.Asn159Asp | |
| NM_004502.4:c.475A>G MANE Select | NP_004493.3:p.Asn159Asp |