Revel Score:
ENST00000355349 (MANE Select)
0.848
ENST00000544444
0.848
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23415021G>A , CM000676.2:g.23415021G>A | GRCh38 |
| NC_000014.8:g.23884230G>A , CM000676.1:g.23884230G>A | GRCh37 |
| NC_000014.7:g.22954070G>A | NCBI36 |
| NG_007884.1:g.25641C>T , LRG_384:g.25641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.5533C>T MANE Select | ENSP00000347507.3:p.Arg1845Trp | |
| ENST00000355349.3:c.5533C>T | ENSP00000347507.3:p.Arg1845Trp | |
| NM_000257.3:c.5533C>T | NP_000248.2:p.Arg1845Trp | |
| XM_017021340.1:c.5533C>T | XP_016876829.1:p.Arg1845Trp | |
| NM_000257.4:c.5533C>T MANE Select | NP_000248.2:p.Arg1845Trp |