Revel Score:
ENST00000373960 (MANE Select)
0.495
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004535 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004699 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421343G>A , CM000664.2:g.219421343G>A | GRCh38 |
| NC_000002.11:g.220286065G>A , CM000664.1:g.220286065G>A | GRCh37 |
| NC_000002.10:g.219994309G>A | NCBI36 |
| NG_008043.1:g.7967G>A , LRG_380:g.7967G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.501G>A | ||
| ENST00000683013.1:n.415G>A | ||
| ENST00000373960.4:c.1027G>A MANE Select | ENSP00000363071.3:p.Asp343Asn | |
| ENST00000373960.3:c.1027G>A | ENSP00000363071.3:p.Asp343Asn | |
| ENST00000477226.5:n.499G>A | ||
| ENST00000492726.1:n.422G>A | ||
| NM_001927.3:c.1027G>A , LRG_380t1:c.1027G>A | NP_001918.3:p.Asp343Asn | |
| NM_001927.4:c.1027G>A MANE Select | NP_001918.3:p.Asp343Asn | |
| NM_001382708.1:c.1024G>A | NP_001369637.1:p.Asp342Asn | |
| NM_001382709.1:c.736-141G>A | NP_001369638.1:n.736-141G>A | |
| NM_001382710.1:c.1024-66G>A | NP_001369639.1:n.1024-66G>A | |
| NM_001382711.1:c.1024-18G>A | NP_001369640.1:n.1024-18G>A | |
| NM_001382712.1:c.1027G>A | NP_001369641.1:p.Asp343Asn | |
| NM_001382713.1:c.757G>A | NP_001369642.1:p.Asp253Asn |