Revel Score:
ENST00000373960 (MANE Select)
0.832
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219421464G>A , CM000664.2:g.219421464G>A | GRCh38 |
| NC_000002.11:g.220286186G>A , CM000664.1:g.220286186G>A | GRCh37 |
| NC_000002.10:g.219994430G>A | NCBI36 |
| NG_008043.1:g.8088G>A , LRG_380:g.8088G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.622G>A | ||
| ENST00000683013.1:n.536G>A | ||
| ENST00000373960.4:c.1148G>A MANE Select | ENSP00000363071.3:p.Arg383His | |
| ENST00000373960.3:c.1148G>A | ENSP00000363071.3:p.Arg383His | |
| ENST00000477226.5:n.620G>A | ||
| ENST00000492726.1:n.543G>A | ||
| NM_001927.3:c.1148G>A , LRG_380t1:c.1148G>A | NP_001918.3:p.Arg383His | |
| NM_001927.4:c.1148G>A MANE Select | NP_001918.3:p.Arg383His | |
| NM_001382708.1:c.1145G>A | NP_001369637.1:p.Arg382His | |
| NM_001382709.1:c.736-20G>A | NP_001369638.1:n.736-20G>A | |
| NM_001382710.1:c.1079G>A | NP_001369639.1:p.Arg360His | |
| NM_001382711.1:c.1127G>A | NP_001369640.1:p.Arg376His | |
| NM_001382712.1:c.1148G>A | NP_001369641.1:p.Arg383His | |
| NM_001382713.1:c.878G>A | NP_001369642.1:p.Arg293His |