Revel Score:
ENST00000373960 (MANE Select)
0.637
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001062 (AFR)
Genomes Max Group AF
0.00001915 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421494A>G , CM000664.2:g.219421494A>G | GRCh38 |
| NC_000002.11:g.220286216A>G , CM000664.1:g.220286216A>G | GRCh37 |
| NC_000002.10:g.219994460A>G | NCBI36 |
| NG_008043.1:g.8118A>G , LRG_380:g.8118A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.652A>G | ||
| ENST00000683013.1:n.566A>G | ||
| ENST00000373960.4:c.1178A>G MANE Select | ENSP00000363071.3:p.Asn393Ser | |
| ENST00000373960.3:c.1178A>G | ENSP00000363071.3:p.Asn393Ser | |
| ENST00000477226.5:n.650A>G | ||
| ENST00000492726.1:n.573A>G | ||
| NM_001927.3:c.1178A>G , LRG_380t1:c.1178A>G | NP_001918.3:p.Asn393Ser | |
| NM_001927.4:c.1178A>G MANE Select | NP_001918.3:p.Asn393Ser | |
| NM_001382708.1:c.1175A>G | NP_001369637.1:p.Asn392Ser | |
| NM_001382709.1:c.746A>G | NP_001369638.1:p.Asn249Ser | |
| NM_001382710.1:c.1109A>G | NP_001369639.1:p.Asn370Ser | |
| NM_001382711.1:c.1157A>G | NP_001369640.1:p.Asn386Ser | |
| NM_001382712.1:c.1178A>G | NP_001369641.1:p.Asn393Ser | |
| NM_001382713.1:c.908A>G | NP_001369642.1:p.Asn303Ser |