Revel Score:
ENST00000232975 (MANE Select)
0.323
ENST00000496590
0.323
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452147G>T , CM000665.2:g.52452147G>T | GRCh38 |
| NC_000003.11:g.52486163G>T , CM000665.1:g.52486163G>T | GRCh37 |
| NC_000003.10:g.52461203G>T | NCBI36 |
| NG_008963.1:g.6895C>A , LRG_378:g.6895C>A | |
| NG_033112.1:g.1640G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.161C>A MANE Select | ENSP00000232975.3:p.Pro54His | |
| ENST00000232975.7:c.161C>A | ENSP00000232975.3:p.Pro54His | |
| ENST00000496590.1:c.29C>A | ENSP00000420596.1:p.Pro10His | |
| NM_003280.2:c.161C>A , LRG_378t1:c.161C>A | NP_003271.1:p.Pro54His | |
| NM_003280.3:c.161C>A MANE Select | NP_003271.1:p.Pro54His |