Revel Score:
ENST00000455106
0.151
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41820303C>T , CM000679.2:g.41820303C>T | GRCh38 |
| NC_000017.10:g.39976555C>T , CM000679.1:g.39976555C>T | GRCh37 |
| NC_000017.9:g.37230081C>T | NCBI36 |
| NG_015860.1:g.12594C>T , LRG_12:g.12594C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706683.1:c.762C>T | ENSP00000516497.1:p.Phe254= | |
| ENST00000321562.9:c.1098C>T MANE Select | ENSP00000317232.4:p.Phe366= | |
| ENST00000321562.8:c.1098C>T | ENSP00000317232.4:p.Phe366= | |
| ENST00000455106.1:c.509C>T | ||
| ENST00000489591.5:c.*882C>T | ENSP00000466352.1:n.*882C>T | |
| ENST00000490938.5:n.301C>T | ||
| NM_021939.3:c.1098C>T , LRG_12t1:c.1098C>T | NP_068758.3:p.Phe366= | |
| XM_011525099.1:c.1098C>T | XP_011523401.1:p.Phe366= | |
| XM_011525100.1:c.825C>T | XP_011523402.1:p.Phe275= | |
| XM_011525099.3:c.1098C>T | XP_011523401.1:p.Phe366= | |
| XM_011525100.2:c.825C>T | XP_011523402.1:p.Phe275= | |
| NM_021939.4:c.1098C>T MANE Select | NP_068758.3:p.Phe366= |