Revel Score:
ENST00000003084 (MANE Select)
0.929
ENST00000454343
0.929
gnomAD v4:
Joint Max Group AF
0.00000192 (NFE)
Exomes Max Group AF
0.00000204 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117534280T>C , CM000669.2:g.117534280T>C | GRCh38 |
| NC_000007.13:g.117174334T>C , CM000669.1:g.117174334T>C | GRCh37 |
| NC_000007.12:g.116961570T>C | NCBI36 |
| NG_016465.4:g.73497T>C , LRG_663:g.73497T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.494T>C | ENSP00000497673.2:p.Leu165Ser | |
| ENST00000647978.2:c.*391T>C | ENSP00000497658.1:n.*391T>C | |
| ENST00000649781.2:c.494T>C | ENSP00000497203.1:p.Leu165Ser | |
| ENST00000685018.2:c.494T>C | ENSP00000510194.2:p.Leu165Ser | |
| ENST00000687278.2:c.494T>C | ENSP00000509593.2:p.Leu165Ser | |
| ENST00000699585.1:c.494T>C | ENSP00000514456.1:p.Leu165Ser | |
| ENST00000699596.1:c.494T>C | ENSP00000514465.1:p.Leu165Ser | |
| ENST00000699597.1:c.494T>C | ENSP00000514466.1:p.Leu165Ser | |
| ENST00000699598.1:c.494T>C | ENSP00000514467.1:p.Leu165Ser | |
| ENST00000699599.1:c.494T>C | ENSP00000514468.1:p.Leu165Ser | |
| ENST00000699600.1:c.494T>C | ENSP00000514469.1:p.Leu165Ser | |
| ENST00000699601.1:c.494T>C | ENSP00000514470.1:p.Leu165Ser | |
| ENST00000699602.1:c.494T>C | ENSP00000514471.1:p.Leu165Ser | |
| ENST00000699604.1:c.*318T>C | ENSP00000514472.1:n.*318T>C | |
| ENST00000699605.1:c.251T>C | ENSP00000514473.1:p.Leu84Ser | |
| ENST00000003084.11:c.494T>C MANE Select | ENSP00000003084.6:p.Leu165Ser | |
| ENST00000647978.1:c.*391T>C | ENSP00000497658.1:n.*391T>C | |
| ENST00000648260.1:c.494T>C | ENSP00000497957.1:p.Leu165Ser | |
| ENST00000649406.1:c.494T>C | ENSP00000497965.1:p.Leu165Ser | |
| ENST00000649781.1:c.494T>C | ENSP00000497203.1:p.Leu165Ser | |
| ENST00000673785.1:c.251T>C | ENSP00000501235.1:p.Leu84Ser | |
| ENST00000003084.10:c.494T>C | ENSP00000003084.6:p.Leu165Ser | |
| ENST00000426809.5:c.490-968T>C | ENSP00000389119.1:n.490-968T>C | |
| NM_000492.3:c.494T>C , LRG_663t1:c.494T>C | NP_000483.3:p.Leu165Ser | |
| XM_011515751.1:c.584T>C | XP_011514053.1:p.Leu195Ser | |
| XM_011515752.1:c.584T>C | XP_011514054.1:p.Leu195Ser | |
| XM_011515753.1:c.251T>C | XP_011514055.1:p.Leu84Ser | |
| XM_011515754.1:c.251T>C | XP_011514056.1:p.Leu84Ser | |
| NM_000492.4:c.494T>C MANE Select | NP_000483.3:p.Leu165Ser |