Revel Score:
ENST00000503569
0.562
ENST00000226760 (MANE Select)
0.562
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00035039 (SAS)
Genomes Max Group AF
0.00023048 (NFE)
Exomes Max Group AF
0.00035951 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300819G>A , CM000666.2:g.6300819G>A | GRCh38 |
| NC_000004.11:g.6302546G>A , CM000666.1:g.6302546G>A | GRCh37 |
| NC_000004.10:g.6353447G>A | NCBI36 |
| NG_011700.1:g.35970G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1060G>A | ENSP00000507852.1:p.Ala354Thr | |
| ENST00000683395.1:c.1001G>A | ||
| ENST00000684087.1:c.1024G>A | ENSP00000506978.1:p.Ala342Thr | |
| ENST00000506362.2:c.775G>A | ENSP00000424103.2:p.Ala259Thr | |
| ENST00000673642.1:c.683G>A | ENSP00000501242.1:p.Arg228His | |
| ENST00000673991.1:c.1060G>A | ENSP00000501033.1:p.Ala354Thr | |
| ENST00000226760.5:c.1024G>A MANE Select | ENSP00000226760.1:p.Ala342Thr | |
| ENST00000503569.5:c.1024G>A | ENSP00000423337.1:p.Ala342Thr | |
| ENST00000506362.1:c.657G>A | ||
| ENST00000507765.1:n.1209G>A | ||
| NM_001145853.1:c.1024G>A | NP_001139325.1:p.Ala342Thr | |
| NM_006005.3:c.1024G>A MANE Select | NP_005996.2:p.Ala342Thr | |
| XM_017008586.1:c.1033G>A | XP_016864075.1:p.Ala345Thr |