Revel Score:
ENST00000448525
0.908
ENST00000262318
0.908
ENST00000382745 (MANE Select)
0.908
ENST00000428756
0.908
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1459139C>T , CM000678.2:g.1459139C>T | GRCh38 |
| NC_000016.9:g.1509140C>T , CM000678.1:g.1509140C>T | GRCh37 |
| NC_000016.8:g.1449141C>T | NCBI36 |
| NG_007567.1:g.20946G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699947.1:c.643G>A | ENSP00000514703.1:p.Gly215Arg | |
| ENST00000699948.1:c.643G>A | ENSP00000514704.1:p.Gly215Arg | |
| ENST00000699950.1:n.595G>A | ||
| ENST00000382745.9:c.643G>A MANE Select | ENSP00000372193.4:p.Gly215Arg | |
| ENST00000262318.12:c.571G>A | ENSP00000262318.8:p.Gly191Arg | |
| ENST00000382745.8:c.643G>A | ENSP00000372193.4:p.Gly215Arg | |
| ENST00000448525.5:c.571G>A | ENSP00000410907.1:p.Gly191Arg | |
| ENST00000563822.1:n.274G>A | ||
| ENST00000564968.1:n.192G>A | ||
| ENST00000569851.6:c.469G>A | ENSP00000461009.1:p.Gly157Arg | |
| NM_001114331.2:c.571G>A | NP_001107803.1:p.Gly191Arg | |
| NM_001287.5:c.643G>A | NP_001278.1:p.Gly215Arg | |
| XM_011522354.1:c.469G>A | XP_011520656.1:p.Gly157Arg | |
| NM_001287.6:c.643G>A MANE Select | NP_001278.1:p.Gly215Arg | |
| NM_001114331.3:c.571G>A | NP_001107803.1:p.Gly191Arg |