Revel Score:
ENST00000268124 (MANE Select)
0.759
ENST00000442287
0.759
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89330106T>G , CM000677.2:g.89330106T>G | GRCh38 |
| NC_000015.9:g.89873337T>G , CM000677.1:g.89873337T>G | GRCh37 |
| NC_000015.8:g.87674341T>G | NCBI36 |
| NG_008218.1:g.9690A>C | |
| NG_008218.2:g.9690A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000636937.2:c.830A>C | ENSP00000516154.1:p.His277Pro | |
| ENST00000268124.11:c.830A>C MANE Select | ENSP00000268124.5:p.His277Pro | |
| ENST00000530292.3:c.431A>C | ENSP00000432885.2:p.His144Pro | |
| ENST00000635986.2:c.830A>C | ENSP00000490653.2:p.His277Pro | |
| ENST00000636774.1:c.830A>C | ENSP00000489799.1:p.His277Pro | |
| ENST00000666746.1:c.487A>C | ||
| ENST00000672071.1:n.1028A>C | ||
| ENST00000268124.9:c.830A>C | ENSP00000268124.5:p.His277Pro | |
| ENST00000442287.6:c.830A>C | ENSP00000399851.2:p.His277Pro | |
| ENST00000631044.2:c.*213A>C | ENSP00000486730.1:n.*213A>C | |
| NM_001126131.1:c.830A>C | NP_001119603.1:p.His277Pro | |
| NM_002693.2:c.830A>C | NP_002684.1:p.His277Pro | |
| NM_001126131.2:c.830A>C | NP_001119603.1:p.His277Pro | |
| NM_002693.3:c.830A>C MANE Select | NP_002684.1:p.His277Pro |