Revel Score:
ENST00000367797 (MANE Select)
0.224
ENST00000367796
0.224
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00808656 (SAS)
Genomes Max Group AF
0.00589872 (SAS)
Exomes Max Group AF
0.00811164 (SAS)
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169530940G>C , CM000663.2:g.169530940G>C | GRCh38 |
| NC_000001.10:g.169500178G>C , CM000663.1:g.169500178G>C | GRCh37 |
| NC_000001.9:g.167766802G>C | NCBI36 |
| NG_011806.1:g.60592C>G , LRG_553:g.60592C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367797.9:c.5054C>G MANE Select | ENSP00000356771.3:p.Thr1685Ser | |
| ENST00000367796.3:c.5069C>G | ENSP00000356770.3:p.Thr1690Ser | |
| ENST00000367797.7:c.5054C>G | ENSP00000356771.3:p.Thr1685Ser | |
| NM_000130.4:c.5054C>G , LRG_553t1:c.5054C>G | NP_000121.2:p.Thr1685Ser | |
| XM_017000660.2:c.4643C>G | XP_016856149.1:p.Thr1548Ser | |
| NM_000130.5:c.5054C>G MANE Select | NP_000121.2:p.Thr1685Ser |