Revel Score:
ENST00000263253 (MANE Select)
0.982
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41169525G>C , CM000684.2:g.41169525G>C | GRCh38 |
| NC_000022.10:g.41565529G>C , CM000684.1:g.41565529G>C | GRCh37 |
| NC_000022.9:g.39895475G>C | NCBI36 |
| NG_009817.1:g.81916G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703544.1:c.*2115G>C | ENSP00000515365.1:n.*2115G>C | |
| ENST00000263253.9:c.4195G>C MANE Select | ENSP00000263253.7:p.Asp1399His | |
| ENST00000674155.1:c.4117G>C | ENSP00000501078.1:p.Asp1373His | |
| ENST00000263253.8:c.4195G>C | ENSP00000263253.7:p.Asp1399His | |
| NM_001429.3:c.4195G>C | NP_001420.2:p.Asp1399His | |
| XM_006724165.2:c.4117G>C | XP_006724228.1:p.Asp1373His | |
| NM_001362843.1:c.4117G>C | NP_001349772.1:p.Asp1373His | |
| NM_001429.4:c.4195G>C MANE Select | NP_001420.2:p.Asp1399His | |
| NM_001362843.2:c.4117G>C | NP_001349772.1:p.Asp1373His |