Revel Score:
ENST00000327304 (MANE Select)
0.118
ENST00000396521
0.118
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00224131 (SAS)
Genomes Max Group AF
0.00082357 (SAS)
Exomes Max Group AF
0.00228047 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37784879T>G , CM000671.2:g.37784879T>G | GRCh38 |
| NC_000009.11:g.37784876T>G , CM000671.1:g.37784876T>G | GRCh37 |
| NC_000009.10:g.37774876T>G | NCBI36 |
| NG_032780.1:g.5214A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.166A>C MANE Select | ENSP00000323046.4:p.Asn56His | |
| ENST00000678095.1:c.-70-816A>C | ENSP00000503205.1:n.-70-816A>C | |
| ENST00000678588.1:n.186A>C | ||
| ENST00000679059.1:c.166A>C | ENSP00000503947.1:p.Asn56His | |
| ENST00000327304.9:c.166A>C | ENSP00000323046.4:p.Asn56His | |
| ENST00000396521.3:c.166A>C | ENSP00000379775.3:p.Asn56His | |
| ENST00000465229.5:c.166A>C | ENSP00000418422.1:p.Asn56His | |
| ENST00000482614.5:n.86-816A>C | ||
| ENST00000489414.5:n.44-816A>C | ||
| ENST00000540557.1:c.*761-816A>C | ENSP00000457548.1:n.*761-816A>C | |
| NM_001002269.2:c.166A>C | NP_001002269.1:p.Asn56His | |
| NM_016042.3:c.166A>C | NP_057126.2:p.Asn56His | |
| NM_016042.4:c.166A>C MANE Select | NP_057126.2:p.Asn56His |