Revel Score:
ENST00000523273
0.394
ENST00000318410 (MANE Select)
0.943
ENST00000517845
0.943
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125056817C>A , CM000670.2:g.125056817C>A | GRCh38 |
| NC_000008.10:g.126069059C>A , CM000670.1:g.126069059C>A | GRCh37 |
| NC_000008.9:g.126138241C>A | NCBI36 |
| NG_012636.1:g.40003G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.1876G>T MANE Select | ENSP00000318016.7:p.Val626Phe | |
| ENST00000318410.11:c.1876G>T | ENSP00000318016.7:p.Val626Phe | |
| ENST00000517845.5:c.1432G>T | ENSP00000429676.1:p.Val478Phe | |
| NM_014846.3:c.1876G>T | NP_055661.3:p.Val626Phe | |
| XM_005251120.2:c.1432G>T | XP_005251177.1:p.Val478Phe | |
| XM_011517409.1:c.1876G>T | XP_011515711.1:p.Val626Phe | |
| XM_011517410.1:c.1876G>T | XP_011515712.1:p.Val626Phe | |
| NM_001330609.1:c.1432G>T | NP_001317538.1:p.Val478Phe | |
| XM_017014113.2:c.1876G>T | XP_016869602.1:p.Val626Phe | |
| NM_014846.4:c.1876G>T MANE Select | NP_055661.3:p.Val626Phe | |
| NM_001330609.2:c.1432G>T | NP_001317538.1:p.Val478Phe |