Revel Score:
ENST00000520113 (MANE Select)
0.761
ENST00000369538
0.761
ENST00000353928
0.761
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677992G>T , CM000663.2:g.114677992G>T | GRCh38 |
| NC_000001.10:g.115220613G>T , CM000663.1:g.115220613G>T | GRCh37 |
| NC_000001.9:g.115022136G>T | NCBI36 |
| NG_008012.1:g.22564C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1130C>A | ENSP00000358551.4:p.Pro377His | |
| ENST00000520113.7:c.1142C>A MANE Select | ENSP00000430075.3:p.Pro381His | |
| ENST00000637080.1:c.925C>A | ENSP00000489753.1:n.925C>A | |
| ENST00000639077.1:n.807C>A | ||
| ENST00000369538.3:c.1229C>A | ENSP00000358551.3:p.Pro410His | |
| ENST00000520113.6:c.1241C>A | ENSP00000430075.2:p.Pro414His | |
| NM_000036.2:c.1241C>A | NP_000027.2:p.Pro414His | |
| NM_001172626.1:c.1229C>A | NP_001166097.1:p.Pro410His | |
| NM_000036.3:c.1142C>A MANE Select | NP_000027.3:p.Pro381His | |
| NM_001172626.2:c.1130C>A | NP_001166097.2:p.Pro377His |