Revel Score:
ENST00000375244
0.397
ENST00000375247
0.397
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00030333 (AMR)
Genomes Max Group AF
0.00026037 (AMR)
Exomes Max Group AF
0.00025942 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32068536T>A , CM000668.2:g.32068536T>A | GRCh38 |
| NC_000006.11:g.32036313T>A , CM000668.1:g.32036313T>A | GRCh37 |
| NC_000006.10:g.32144291T>A | NCBI36 |
| NG_008337.2:g.45839A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644971.2:c.6074A>T MANE Select | ENSP00000496448.1:p.Asp2025Val | |
| ENST00000647633.1:c.6815A>T | ENSP00000497649.1:p.Asp2272Val | |
| ENST00000375244.7:c.6074A>T | ENSP00000364393.3:p.Asp2025Val | |
| ENST00000613214.4:c.6335A>T | ENSP00000480067.1:n.6335A>T | |
| NM_019105.6:c.6074A>T | NP_061978.6:p.Asp2025Val | |
| NM_001365276.1:c.6074A>T | NP_001352205.1:p.Asp2025Val | |
| NM_019105.7:c.6074A>T | NP_061978.6:p.Asp2025Val | |
| NM_001365276.2:c.6074A>T MANE Select | NP_001352205.1:p.Asp2025Val | |
| NM_019105.8:c.6074A>T | NP_061978.6:p.Asp2025Val |