Revel Score:
ENST00000546004
0.564
ENST00000217270
0.564
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00369635 (NFE)
Genomes Max Group AF
0.00299445 (NFE)
Exomes Max Group AF
0.00372029 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5302677A>C , CM000682.2:g.5302677A>C | GRCh38 |
| NC_000020.10:g.5283323A>C , CM000682.1:g.5283323A>C | GRCh37 |
| NC_000020.9:g.5231323A>C | NCBI36 |
| NG_008132.1:g.16693T>G | |
| NG_008132.2:g.16693T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.518T>G | ENSP00000217270.3:p.Leu173Arg | |
| ENST00000678059.1:c.410T>G | ENSP00000503366.1:p.Leu137Arg | |
| ENST00000678254.1:c.518T>G MANE Select | ENSP00000504128.1:p.Leu173Arg | |
| ENST00000217270.3:c.518T>G | ENSP00000217270.3:p.Leu173Arg | |
| NM_144773.2:c.518T>G | NP_658986.1:p.Leu173Arg | |
| XM_005260663.2:c.518T>G | XP_005260720.1:p.Leu173Arg | |
| XM_011529159.1:c.410T>G | XP_011527461.1:p.Leu137Arg | |
| NM_144773.3:c.518T>G | NP_658986.1:p.Leu173Arg | |
| XM_017027646.1:c.518T>G | XP_016883135.1:p.Leu173Arg | |
| NM_144773.4:c.518T>G MANE Select | NP_658986.1:p.Leu173Arg |