Revel Score:
ENST00000232975 (MANE Select)
0.595
ENST00000496590
0.595
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52452167C>T , CM000665.2:g.52452167C>T | GRCh38 |
| NC_000003.11:g.52486183C>T , CM000665.1:g.52486183C>T | GRCh37 |
| NC_000003.10:g.52461223C>T | NCBI36 |
| NG_008963.1:g.6875G>A , LRG_378:g.6875G>A | |
| NG_033112.1:g.1660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232975.8:c.141G>A MANE Select | ENSP00000232975.3:p.Met47Ile | |
| ENST00000232975.7:c.141G>A | ENSP00000232975.3:p.Met47Ile | |
| ENST00000496590.1:c.9G>A | ENSP00000420596.1:p.Met3Ile | |
| NM_003280.2:c.141G>A , LRG_378t1:c.141G>A | NP_003271.1:p.Met47Ile | |
| NM_003280.3:c.141G>A MANE Select | NP_003271.1:p.Met47Ile |