Revel Score:
ENST00000263321 (MANE Select)
0.944
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00023783 (NFE)
Genomes Max Group AF
0.00012434 (NFE)
Exomes Max Group AF
0.0002406 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89284924G>A , CM000673.2:g.89284924G>A | GRCh38 |
| NC_000011.9:g.89018092G>A , CM000673.1:g.89018092G>A | GRCh37 |
| NC_000011.8:g.88657740G>A | NCBI36 |
| NG_008748.1:g.112053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.1336G>A MANE Select | ENSP00000263321.4:p.Gly446Ser | |
| ENST00000263321.5:c.1336G>A | ENSP00000263321.4:p.Gly446Ser | |
| ENST00000528243.1:n.334G>A | ||
| NM_000372.4:c.1336G>A | NP_000363.1:p.Gly446Ser | |
| XM_011542970.1:c.1336G>A | XP_011541272.1:p.Gly446Ser | |
| XM_011542970.2:c.1336G>A | XP_011541272.1:p.Gly446Ser | |
| XR_001748321.1:n.2456+1110C>T | ||
| XR_001748322.1:n.2457+1110C>T | ||
| NM_000372.5:c.1336G>A MANE Select | NP_000363.1:p.Gly446Ser |