Revel Score:
ENST00000442457
0.082
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000812 (NFE)
Exomes Max Group AF
0.00000762 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693358C>T , CM000685.2:g.153693358C>T | GRCh38 |
| NC_000023.10:g.152958813C>T , CM000685.1:g.152958813C>T | GRCh37 |
| NC_000023.9:g.152612007C>T | NCBI36 |
| NG_012016.1:g.10062C>T | |
| NG_012016.2:g.10062C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1008C>T MANE Select | ENSP00000253122.5:p.Asn336= | |
| ENST00000253122.9:c.1008C>T | ENSP00000253122.5:p.Asn336= | |
| ENST00000413787.1:c.154C>T | ENSP00000400463.1:p.Leu52= | |
| ENST00000430077.6:c.663C>T | ENSP00000403041.2:p.Asn221= | |
| ENST00000442457.1:c.92C>T | ||
| ENST00000467402.1:n.146-134C>T | ||
| ENST00000485324.1:n.1041C>T | ||
| NM_001142805.1:c.1008C>T | NP_001136277.1:p.Asn336= | |
| NM_001142806.1:c.663C>T | NP_001136278.1:p.Asn221= | |
| NM_005629.3:c.1008C>T | NP_005620.1:p.Asn336= | |
| NM_005629.4:c.1008C>T MANE Select | NP_005620.1:p.Asn336= | |
| NM_001142805.2:c.1008C>T | NP_001136277.1:p.Asn336= |