Revel Score:
ENST00000343849 (MANE Select)
0.623
ENST00000397368
0.623
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003471 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.8745716C>T , CM000665.2:g.8745716C>T | GRCh38 |
| NC_000003.11:g.8787402C>T , CM000665.1:g.8787402C>T | GRCh37 |
| NC_000003.10:g.8762402C>T | NCBI36 |
| NG_008797.2:g.16907C>T , LRG_329:g.16907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343849.3:c.305C>T MANE Select | ENSP00000341940.2:p.Ala102Val | |
| ENST00000343849.2:c.305C>T | ENSP00000341940.2:p.Ala102Val | |
| ENST00000397368.2:c.305C>T | ENSP00000380525.2:p.Ala102Val | |
| ENST00000472766.1:n.155+11726C>T | ||
| NM_001234.4:c.305C>T | NP_001225.1:p.Ala102Val | |
| NM_033337.2:c.305C>T , LRG_329t1:c.305C>T | NP_203123.1:p.Ala102Val | |
| NM_001234.5:c.305C>T | NP_001225.1:p.Ala102Val | |
| NM_033337.3:c.305C>T MANE Select | NP_203123.1:p.Ala102Val |