Revel Score:
ENST00000342754
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0410088 (AFR)
Genomes Max Group AF
0.03971289 (AFR)
Exomes Max Group AF
0.04148927 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.77918189G>A , CM000663.2:g.77918189G>A | GRCh38 |
| NC_000001.10:g.78383874G>A , CM000663.1:g.78383874G>A | GRCh37 |
| NC_000001.9:g.78156462G>A | NCBI36 |
| NG_016625.1:g.34675G>A , LRG_442:g.34675G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334785.12:c.363G>A MANE Select | ENSP00000333938.7:p.Thr121= | |
| ENST00000330010.12:c.171G>A | ENSP00000327363.8:p.Thr57= | |
| ENST00000334785.11:c.363G>A | ENSP00000333938.7:p.Thr121= | |
| ENST00000342754.5:c.62G>A | ||
| ENST00000401035.7:c.171G>A | ENSP00000383814.3:p.Thr57= | |
| ENST00000440324.5:c.363G>A | ENSP00000411902.1:p.Thr121= | |
| NM_001172309.1:c.171G>A | NP_001165780.1:p.Thr57= | |
| NM_144573.3:c.363G>A , LRG_442t1:c.363G>A | NP_653174.3:p.Thr121= | |
| XM_005271322.2:c.363G>A | XP_005271379.1:p.Thr121= | |
| XM_005271323.2:c.363G>A | XP_005271380.1:p.Thr121= | |
| XM_005271324.3:c.171G>A | XP_005271381.1:p.Thr57= | |
| XM_005271325.2:c.363G>A | XP_005271382.1:p.Thr121= | |
| XM_005271326.2:c.171G>A | XP_005271383.1:p.Thr57= | |
| XM_005271327.2:c.363G>A | XP_005271384.1:p.Thr121= | |
| XM_005271322.4:c.363G>A | XP_005271379.1:p.Thr121= | |
| XM_005271323.4:c.363G>A | XP_005271380.1:p.Thr121= | |
| XM_005271324.5:c.171G>A | XP_005271381.1:p.Thr57= | |
| XM_005271325.4:c.363G>A | XP_005271382.1:p.Thr121= | |
| XM_005271326.4:c.171G>A | XP_005271383.1:p.Thr57= | |
| XM_005271327.4:c.363G>A | XP_005271384.1:p.Thr121= | |
| NM_001172309.2:c.171G>A | NP_001165780.1:p.Thr57= | |
| NM_144573.4:c.363G>A MANE Select | NP_653174.3:p.Thr121= |