Revel Score:
ENST00000271588 (MANE Select)
0.604
ENST00000367492
0.604
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186122954C>A , CM000663.2:g.186122954C>A | GRCh38 |
| NC_000001.10:g.186092086C>A , CM000663.1:g.186092086C>A | GRCh37 |
| NC_000001.9:g.184358709C>A | NCBI36 |
| NG_011841.1:g.393404C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.12233C>A MANE Select | ENSP00000271588.4:p.Pro4078His | |
| ENST00000271588.8:c.12233C>A | ENSP00000271588.4:p.Pro4078His | |
| NM_031935.2:c.12233C>A | NP_114141.2:p.Pro4078His | |
| XM_011510037.1:c.11948C>A | XP_011508339.1:p.Pro3983His | |
| XM_011510038.1:c.12233C>A | XP_011508340.1:p.Pro4078His | |
| XM_011510039.1:c.12233C>A | XP_011508341.1:p.Pro4078His | |
| XM_011510038.3:c.12233C>A | XP_011508340.1:p.Pro4078His | |
| XM_017002437.1:c.10256C>A | XP_016857926.1:p.Pro3419His | |
| NM_031935.3:c.12233C>A MANE Select | NP_114141.2:p.Pro4078His |