Revel Score:
ENST00000373960 (MANE Select)
0.847
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027545 (AMR)
Genomes Max Group AF
0.00035367 (AMR)
Exomes Max Group AF
0.00025647 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.219420151G>A , CM000664.2:g.219420151G>A | GRCh38 |
| NC_000002.11:g.220284873G>A , CM000664.1:g.220284873G>A | GRCh37 |
| NC_000002.10:g.219993117G>A | NCBI36 |
| NG_008043.1:g.6775G>A , LRG_380:g.6775G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000477226.6:n.109G>A | ||
| ENST00000373960.4:c.635G>A MANE Select | ENSP00000363071.3:p.Arg212Gln | |
| ENST00000373960.3:c.635G>A | ENSP00000363071.3:p.Arg212Gln | |
| ENST00000477226.5:n.107G>A | ||
| ENST00000492726.1:n.30G>A | ||
| NM_001927.3:c.635G>A , LRG_380t1:c.635G>A | NP_001918.3:p.Arg212Gln | |
| NM_001927.4:c.635G>A MANE Select | NP_001918.3:p.Arg212Gln | |
| NM_001382708.1:c.635G>A | NP_001369637.1:p.Arg212Gln | |
| NM_001382709.1:c.635G>A | NP_001369638.1:p.Arg212Gln | |
| NM_001382710.1:c.635G>A | NP_001369639.1:p.Arg212Gln | |
| NM_001382711.1:c.635G>A | NP_001369640.1:p.Arg212Gln | |
| NM_001382712.1:c.635G>A | NP_001369641.1:p.Arg212Gln | |
| NM_001382713.1:c.496-374G>A | NP_001369642.1:n.496-374G>A |