Revel Score:
ENST00000268124 (MANE Select)
0.938
ENST00000442287
0.938
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89317447T>C , CM000677.2:g.89317447T>C | GRCh38 |
| NC_000015.9:g.89860678T>C , CM000677.1:g.89860678T>C | GRCh37 |
| NC_000015.8:g.87661682T>C | NCBI36 |
| NG_008218.1:g.22349A>G | |
| NG_011736.1:g.78485T>C , LRG_500:g.78485T>C | |
| NG_008218.2:g.22349A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.3572A>G | ENSP00000516154.1:p.Lys1191Arg | |
| ENST00000268124.11:c.3572A>G MANE Select | ENSP00000268124.5:p.Lys1191Arg | |
| ENST00000530292.3:c.3272A>G | ENSP00000432885.2:n.3272A>G | |
| ENST00000635986.2:c.*642A>G | ENSP00000490653.2:n.*642A>G | |
| ENST00000636774.1:c.*2176A>G | ENSP00000489799.1:n.*2176A>G | |
| ENST00000637042.1:n.96A>G | ||
| ENST00000637238.1:c.2480A>G | ENSP00000490756.1:n.2480A>G | |
| ENST00000637264.1:c.2584A>G | ||
| ENST00000666746.1:c.3149A>G | ||
| ENST00000672071.1:n.4774A>G | ||
| ENST00000672695.1:n.1351A>G | ||
| ENST00000672923.2:n.3572A>G | ||
| ENST00000268124.9:c.3572A>G | ENSP00000268124.5:p.Lys1191Arg | |
| ENST00000442287.6:c.3572A>G | ENSP00000399851.2:p.Lys1191Arg | |
| ENST00000526671.1:n.382A>G | ||
| ENST00000530292.2:c.755A>G | ENSP00000432885.1:n.755A>G | |
| ENST00000631044.2:c.*2996A>G | ENSP00000486730.1:n.*2996A>G | |
| NM_001126131.1:c.3572A>G | NP_001119603.1:p.Lys1191Arg | |
| NM_002693.2:c.3572A>G | NP_002684.1:p.Lys1191Arg | |
| NM_001126131.2:c.3572A>G | NP_001119603.1:p.Lys1191Arg | |
| NM_002693.3:c.3572A>G MANE Select | NP_002684.1:p.Lys1191Arg |