Revel Score:
ENST00000373960 (MANE Select)
0.470
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005313 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00005377 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219425699C>A , CM000664.2:g.219425699C>A | GRCh38 |
| NC_000002.11:g.220290421C>A , CM000664.1:g.220290421C>A | GRCh37 |
| NC_000002.10:g.219998665C>A | NCBI36 |
| NG_008043.1:g.12323C>A , LRG_380:g.12323C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.799C>A | ||
| ENST00000683013.1:n.713C>A | ||
| ENST00000373960.4:c.1325C>A MANE Select | ENSP00000363071.3:p.Thr442Asn | |
| ENST00000373960.3:c.1325C>A | ENSP00000363071.3:p.Thr442Asn | |
| ENST00000483395.1:n.180C>A | ||
| NM_001927.3:c.1325C>A , LRG_380t1:c.1325C>A | NP_001918.3:p.Thr442Asn | |
| NM_001927.4:c.1325C>A MANE Select | NP_001918.3:p.Thr442Asn | |
| NM_001382708.1:c.1322C>A | NP_001369637.1:p.Thr441Asn | |
| NM_001382709.1:c.893C>A | NP_001369638.1:p.Thr298Asn | |
| NM_001382710.1:c.1256C>A | NP_001369639.1:p.Thr419Asn | |
| NM_001382711.1:c.1304C>A | NP_001369640.1:p.Thr435Asn | |
| NM_001382712.1:c.1325C>A | NP_001369641.1:p.Thr442Asn | |
| NM_001382713.1:c.1055C>A | NP_001369642.1:p.Thr352Asn |