Revel Score:
ENST00000394992
0.906
ENST00000402673 (MANE Select)
0.906
ENST00000507419
0.906
ENST00000502539
0.906
ENST00000439578
0.906
ENST00000509937
0.906
ENST00000509730
0.906
ENST00000505758
0.906
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002829 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00002713 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.134608443C>T , CM000667.2:g.134608443C>T | GRCh38 |
| NC_000005.9:g.133944133C>T , CM000667.1:g.133944133C>T | GRCh37 |
| NC_000005.8:g.133972032C>T | NCBI36 |
| NG_017002.1:g.29401G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402673.7:c.409G>A MANE Select | ENSP00000385432.2:p.Asp137Asn | |
| ENST00000402673.6:c.409G>A | ENSP00000385432.2:p.Asp137Asn | |
| ENST00000439578.5:c.409G>A | ENSP00000404997.1:p.Asp137Asn | |
| ENST00000502539.5:c.205G>A | ENSP00000426335.1:p.Asp69Asn | |
| ENST00000503318.5:c.*132G>A | ENSP00000425367.1:n.*132G>A | |
| ENST00000505758.5:c.409G>A | ENSP00000425466.1:p.Asp137Asn | |
| ENST00000507419.5:c.205G>A | ENSP00000425339.1:p.Asp69Asn | |
| ENST00000508363.5:n.2378G>A | ||
| ENST00000509730.5:c.205G>A | ENSP00000423197.1:p.Asp69Asn | |
| ENST00000509937.5:c.205G>A | ENSP00000424673.1:p.Asp69Asn | |
| NM_001033503.2:c.409G>A | NP_001028675.1:p.Asp137Asn | |
| NM_016103.3:c.409G>A | NP_057187.1:p.Asp137Asn | |
| NM_016103.4:c.409G>A MANE Select | NP_057187.1:p.Asp137Asn | |
| NM_001033503.3:c.409G>A | NP_001028675.1:p.Asp137Asn |