Revel Score:
ENST00000380448
0.038
ENST00000263126 (MANE Select)
0.038
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.5218719C>T , CM000672.2:g.5218719C>T | GRCh38 |
| NC_000010.10:g.5260682C>T , CM000672.1:g.5260682C>T | GRCh37 |
| NC_000010.9:g.5250682C>T | NCBI36 |
| NG_031872.1:g.26885C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263126.3:c.931C>T MANE Select | ENSP00000263126.1:p.Leu311Phe | |
| ENST00000263126.2:c.931C>T | ENSP00000263126.1:p.Leu311Phe | |
| ENST00000380448.5:c.931C>T | ENSP00000369814.1:p.Leu311Phe | |
| NM_001818.3:c.931C>T | NP_001809.3:p.Leu311Phe | |
| XM_011519303.1:c.976C>T | XP_011517605.1:p.Leu326Phe | |
| NM_001818.4:c.931C>T | NP_001809.3:p.Leu311Phe | |
| NM_001818.5:c.931C>T MANE Select | NP_001809.4:p.Leu311Phe |