Revel Score:
ENST00000302118 (MANE Select)
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0917481 (AFR)
Genomes Max Group AF
0.09186068 (AFR)
Exomes Max Group AF
0.08993009 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058182G>A , CM000663.2:g.55058182G>A | GRCh38 |
| NC_000001.10:g.55523855G>A , CM000663.1:g.55523855G>A | GRCh37 |
| NC_000001.9:g.55296443G>A | NCBI36 |
| NG_009061.1:g.23636G>A , LRG_275:g.23636G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1327G>A | ENSP00000501161.2:p.Ala443Thr | |
| ENST00000710286.1:c.1684G>A | ENSP00000518176.1:p.Ala562Thr | |
| ENST00000673903.1:c.952G>A | ENSP00000501257.1:p.Ala318Thr | |
| ENST00000673913.1:c.67G>A | ENSP00000501161.1:p.Ala23Thr | |
| ENST00000302118.5:c.1327G>A MANE Select | ENSP00000303208.5:p.Ala443Thr | |
| ENST00000490692.1:n.2051G>A | ||
| NM_174936.3:c.1327G>A , LRG_275t1:c.1327G>A | NP_777596.2:p.Ala443Thr | |
| NR_110451.1:n.961+25G>A | ||
| XM_011541193.1:c.448G>A | XP_011539495.1:p.Ala150Thr | |
| NM_174936.4:c.1327G>A MANE Select | NP_777596.2:p.Ala443Thr | |
| NR_110451.2:n.961+25G>A |