Revel Score:
ENST00000389048 (MANE Select)
0.347
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00025862 (EAS)
Genomes Max Group AF
0.00063468 (EAS)
Exomes Max Group AF
0.00015499 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29214035C>T , CM000664.2:g.29214035C>T | GRCh38 |
| NC_000002.11:g.29436901C>T , CM000664.1:g.29436901C>T | GRCh37 |
| NC_000002.10:g.29290405C>T | NCBI36 |
| NG_009445.1:g.712532G>A , LRG_488:g.712532G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3692G>A MANE Select | ENSP00000373700.3:p.Arg1231Gln | |
| ENST00000431873.6:c.919G>A | ||
| ENST00000638605.1:n.569G>A | ||
| ENST00000642122.1:c.488G>A | ENSP00000493203.1:p.Arg163Gln | |
| ENST00000389048.7:c.3692G>A | ENSP00000373700.3:p.Arg1231Gln | |
| ENST00000431873.5:c.572G>A | ENSP00000414027.2:p.Arg191Gln | |
| ENST00000618119.4:c.2561G>A | ENSP00000482733.1:p.Arg854Gln | |
| NM_004304.4:c.3692G>A | NP_004295.2:p.Arg1231Gln | |
| NM_001353765.1:c.488G>A | NP_001340694.1:p.Arg163Gln | |
| XM_024452778.1:c.845G>A | XP_024308546.1:p.Arg282Gln | |
| XM_024452779.1:c.488G>A | XP_024308547.1:p.Arg163Gln | |
| NM_004304.5:c.3692G>A MANE Select | NP_004295.2:p.Arg1231Gln | |
| NM_001353765.2:c.488G>A | NP_001340694.1:p.Arg163Gln |