Revel Score:
ENST00000268124 (MANE Select)
0.983
ENST00000442287
0.983
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004535 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00004612 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89320850A>C , CM000677.2:g.89320850A>C | GRCh38 |
| NC_000015.9:g.89864081A>C , CM000677.1:g.89864081A>C | GRCh37 |
| NC_000015.8:g.87665085A>C | NCBI36 |
| NG_008218.1:g.18946T>G | |
| NG_008218.2:g.18946T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.2897T>G | ENSP00000516154.1:p.Leu966Arg | |
| ENST00000268124.11:c.2897T>G MANE Select | ENSP00000268124.5:p.Leu966Arg | |
| ENST00000530292.3:c.2498T>G | ENSP00000432885.2:p.Leu833Arg | |
| ENST00000635986.2:c.2897T>G | ENSP00000490653.2:p.Leu966Arg | |
| ENST00000636774.1:c.*1464T>G | ENSP00000489799.1:n.*1464T>G | |
| ENST00000637238.1:c.1706T>G | ENSP00000490756.1:n.1706T>G | |
| ENST00000637264.1:c.1969T>G | ||
| ENST00000666746.1:c.2474T>G | ||
| ENST00000670281.1:c.800+1112T>G | ENSP00000499709.1:n.800+1112T>G | |
| ENST00000672071.1:n.3095T>G | ||
| ENST00000672695.1:n.74T>G | ||
| ENST00000672923.2:n.2839T>G | ||
| ENST00000268124.9:c.2897T>G | ENSP00000268124.5:p.Leu966Arg | |
| ENST00000442287.6:c.2897T>G | ENSP00000399851.2:p.Leu966Arg | |
| ENST00000528881.2:c.494T>G | ||
| ENST00000530715.5:c.205T>G | ENSP00000431395.1:p.Ter69Glu | |
| ENST00000631044.2:c.*2321T>G | ENSP00000486730.1:n.*2321T>G | |
| NM_001126131.1:c.2897T>G | NP_001119603.1:p.Leu966Arg | |
| NM_002693.2:c.2897T>G | NP_002684.1:p.Leu966Arg | |
| NM_001126131.2:c.2897T>G | NP_001119603.1:p.Leu966Arg | |
| NM_002693.3:c.2897T>G MANE Select | NP_002684.1:p.Leu966Arg |