Revel Score:
ENST00000366560 (MANE Select)
0.564
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0005569 (EAS)
Genomes Max Group AF
0.00026276 (EAS)
Exomes Max Group AF
0.00054361 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241513679C>T , CM000663.2:g.241513679C>T | GRCh38 |
| NC_000001.10:g.241676979C>T , CM000663.1:g.241676979C>T | GRCh37 |
| NC_000001.9:g.239743602C>T | NCBI36 |
| NG_012338.1:g.11076G>A , LRG_504:g.11076G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000493477.2:n.805G>A | ||
| ENST00000682162.1:c.331G>A | ENSP00000508203.1:n.331G>A | |
| ENST00000682567.1:n.379G>A | ||
| ENST00000683521.1:c.302G>A | ENSP00000506864.1:p.Arg101Gln | |
| ENST00000684483.1:c.302G>A | ENSP00000507894.1:p.Arg101Gln | |
| ENST00000366560.4:c.302G>A MANE Select | ENSP00000355518.4:p.Arg101Gln | |
| ENST00000366560.3:c.302G>A | ENSP00000355518.3:p.Arg101Gln | |
| NM_000143.3:c.302G>A , LRG_504t1:c.302G>A | NP_000134.2:p.Arg101Gln | |
| XM_011544132.1:c.74G>A | XP_011542434.1:p.Arg25Gln | |
| XM_011544132.2:c.74G>A | XP_011542434.1:p.Arg25Gln | |
| NM_000143.4:c.302G>A MANE Select | NP_000134.2:p.Arg101Gln |