Revel Score:
ENST00000311895 (MANE Select)
0.910
ENST00000389138
0.910
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.13947655G>C , CM000678.2:g.13947655G>C | GRCh38 |
| NC_000016.9:g.14041512G>C , CM000678.1:g.14041512G>C | GRCh37 |
| NC_000016.8:g.13949013G>C | NCBI36 |
| NG_011442.1:g.32499G>C , LRG_463:g.32499G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682617.1:c.2197G>C | ENSP00000507912.1:p.Asp733His | |
| ENST00000683962.1:c.*1753G>C | ENSP00000506854.1:n.*1753G>C | |
| ENST00000311895.8:c.2059G>C MANE Select | ENSP00000310520.7:p.Asp687His | |
| ENST00000311895.7:c.2059G>C | ENSP00000310520.7:p.Asp687His | |
| ENST00000389138.7:n.1336G>C | ||
| ENST00000462862.1:c.372G>C | ENSP00000461322.1:n.372G>C | |
| NM_005236.2:c.2059G>C , LRG_463t1:c.2059G>C | NP_005227.1:p.Asp687His | |
| XM_011522424.1:c.2197G>C | XP_011520726.1:p.Asp733His | |
| XM_011522425.1:c.1516G>C | XP_011520727.1:p.Asp506His | |
| XM_011522426.1:c.1270G>C | XP_011520728.1:p.Asp424His | |
| XM_011522427.1:c.709G>C | XP_011520729.1:p.Asp237His | |
| XR_932805.1:n.2218G>C | ||
| XM_011522424.3:c.2197G>C | XP_011520726.1:p.Asp733His | |
| XM_017023043.2:c.1270G>C | XP_016878532.1:p.Asp424His | |
| NM_005236.3:c.2059G>C MANE Select | NP_005227.1:p.Asp687His |