Revel Score:
ENST00000432176 (MANE Select)
0.826
ENST00000409923
0.826
ENST00000409763
0.826
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.0000307 (NFE)
Exomes Max Group AF
0.00003258 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.22978444A>C , CM000669.2:g.22978444A>C | GRCh38 |
| NC_000007.13:g.23018063A>C , CM000669.1:g.23018063A>C | GRCh37 |
| NC_000007.12:g.22984588A>C | NCBI36 |
| NG_008392.1:g.40708T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432176.7:c.158T>G MANE Select | ENSP00000403396.2:p.Leu53Arg | |
| ENST00000440481.6:c.-275T>G | ENSP00000397168.2:n.-275T>G | |
| ENST00000465661.2:n.349T>G | ||
| ENST00000679789.1:c.158T>G | ENSP00000506308.1:p.Leu53Arg | |
| ENST00000679826.1:c.-275T>G | ENSP00000505460.1:n.-275T>G | |
| ENST00000681079.1:c.158T>G | ENSP00000506370.1:p.Leu53Arg | |
| ENST00000681237.1:c.149-1023T>G | ENSP00000505270.1:n.149-1023T>G | |
| ENST00000681402.1:c.154-40T>G | ENSP00000506692.1:n.154-40T>G | |
| ENST00000681766.1:c.158T>G | ENSP00000505161.1:p.Leu53Arg | |
| ENST00000409763.1:c.158T>G | ENSP00000386624.1:p.Leu53Arg | |
| ENST00000409923.5:c.158T>G | ENSP00000386246.1:p.Leu53Arg | |
| ENST00000432176.6:c.158T>G | ENSP00000403396.2:p.Leu53Arg | |
| ENST00000440481.5:c.313T>G | ||
| ENST00000477349.5:n.248T>G | ||
| NM_032581.3:c.158T>G | NP_115970.2:p.Leu53Arg | |
| XM_005249894.3:c.158T>G | XP_005249951.1:p.Leu53Arg | |
| XM_005249895.1:c.158T>G | XP_005249952.1:p.Leu53Arg | |
| XM_011515589.1:c.158T>G | XP_011513891.1:p.Leu53Arg | |
| XM_011515590.1:c.158T>G | XP_011513892.1:p.Leu53Arg | |
| NM_001363466.1:c.158T>G | NP_001350395.1:p.Leu53Arg | |
| NM_001363467.1:c.158T>G | NP_001350396.1:p.Leu53Arg | |
| XM_011515589.2:c.158T>G | XP_011513891.1:p.Leu53Arg | |
| XM_011515590.2:c.158T>G | XP_011513892.1:p.Leu53Arg | |
| NM_001363466.2:c.158T>G | NP_001350395.1:p.Leu53Arg | |
| NM_001363467.2:c.158T>G | NP_001350396.1:p.Leu53Arg | |
| NM_032581.4:c.158T>G MANE Select | NP_115970.2:p.Leu53Arg |