Revel Score:
ENST00000264033 (MANE Select)
0.228
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025848 (EAS)
Genomes Max Group AF
0.0000905 (NFE)
Exomes Max Group AF
0.00025244 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119299573G>T , CM000673.2:g.119299573G>T | GRCh38 |
| NC_000011.9:g.119170283G>T , CM000673.1:g.119170283G>T | GRCh37 |
| NC_000011.8:g.118675493G>T | NCBI36 |
| NG_016808.1:g.98294G>T , LRG_608:g.98294G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700472.1:c.*1965G>T | ENSP00000515005.1:n.*1965G>T | |
| ENST00000264033.6:c.2513G>T MANE Select | ENSP00000264033.3:p.Gly838Val | |
| ENST00000637974.1:c.2507G>T | ENSP00000490763.1:p.Gly836Val | |
| ENST00000264033.5:c.2513G>T | ENSP00000264033.3:p.Gly838Val | |
| ENST00000634301.1:c.248G>T | ENSP00000489556.1:p.Gly83Val | |
| ENST00000634586.1:c.2513G>T | ENSP00000489218.1:p.Gly838Val | |
| ENST00000634840.1:c.2381G>T | ENSP00000489324.1:p.Gly794Val | |
| NM_005188.3:c.2513G>T , LRG_608t1:c.2513G>T | NP_005179.2:p.Gly838Val | |
| NM_005188.4:c.2513G>T MANE Select | NP_005179.2:p.Gly838Val |