Revel Score:
ENST00000334344 (MANE Select)
0.054
ENST00000549153
0.054
ENST00000338636
0.054
ENST00000422737
0.054
ENST00000444670
0.054
ENST00000457135
0.054
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.06575522 (EAS)
Genomes Max Group AF
0.07002811 (EAS)
Exomes Max Group AF
0.06454254 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45852423G>T , CM000674.2:g.45852423G>T | GRCh38 |
| NC_000012.11:g.46246206G>T , CM000674.1:g.46246206G>T | GRCh37 |
| NC_000012.10:g.44532473G>T | NCBI36 |
| NG_052800.1:g.127759G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422737.7:c.4300G>T | ENSP00000415650.3:p.Ala1434Ser | |
| ENST00000457135.2:c.509G>T | ||
| ENST00000334344.11:c.4300G>T MANE Select | ENSP00000335044.6:p.Ala1434Ser | |
| ENST00000422737.6:c.4221G>T | ||
| ENST00000334344.10:c.4300G>T | ENSP00000335044.6:p.Ala1434Ser | |
| ENST00000422737.5:c.3853G>T | ENSP00000415650.1:p.Ala1285Ser | |
| ENST00000444670.5:c.3130G>T | ENSP00000397307.1:p.Ala1044Ser | |
| ENST00000457135.1:c.124G>T | ENSP00000388357.1:p.Ala42Ser | |
| ENST00000479608.5:n.3591G>T | ||
| NM_152641.2:c.4300G>T | NP_689854.2:p.Ala1434Ser | |
| XM_006719272.2:c.4300G>T | XP_006719335.1:p.Ala1434Ser | |
| XM_011538025.1:c.2668G>T | XP_011536327.1:p.Ala890Ser | |
| XR_944505.1:n.4448G>T | ||
| NM_001347839.1:c.4300G>T | NP_001334768.1:p.Ala1434Ser | |
| NM_152641.3:c.4300G>T | NP_689854.2:p.Ala1434Ser | |
| XM_006719272.4:c.4300G>T | XP_006719335.1:p.Ala1434Ser | |
| XR_944505.3:n.4431G>T | ||
| NM_152641.4:c.4300G>T MANE Select | NP_689854.2:p.Ala1434Ser | |
| NM_001347839.2:c.4300G>T | NP_001334768.1:p.Ala1434Ser |