Revel Score:
ENST00000546004
0.745
ENST00000217270
0.745
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00082617 (AMR)
Genomes Max Group AF
0.00130034 (AMR)
Exomes Max Group AF
0.00055876 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.5314116C>A , CM000682.2:g.5314116C>A | GRCh38 |
| NC_000020.10:g.5294762C>A , CM000682.1:g.5294762C>A | GRCh37 |
| NC_000020.9:g.5242762C>A | NCBI36 |
| NG_008132.1:g.5254G>T | |
| NG_008132.2:g.5254G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217270.4:c.254G>T | ENSP00000217270.3:p.Arg85Leu | |
| ENST00000678059.1:c.146G>T | ENSP00000503366.1:p.Arg49Leu | |
| ENST00000678254.1:c.254G>T MANE Select | ENSP00000504128.1:p.Arg85Leu | |
| ENST00000217270.3:c.254G>T | ENSP00000217270.3:p.Arg85Leu | |
| NM_144773.2:c.254G>T | NP_658986.1:p.Arg85Leu | |
| XM_005260663.2:c.254G>T | XP_005260720.1:p.Arg85Leu | |
| XM_011529159.1:c.146G>T | XP_011527461.1:p.Arg49Leu | |
| NM_144773.3:c.254G>T | NP_658986.1:p.Arg85Leu | |
| XM_017027646.1:c.254G>T | XP_016883135.1:p.Arg85Leu | |
| NM_144773.4:c.254G>T MANE Select | NP_658986.1:p.Arg85Leu |