Revel Score:
ENST00000206542 (MANE Select)
0.164
ENST00000553640
0.164
ENST00000488532
0.164
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20454644T>A , CM000676.2:g.20454644T>A | GRCh38 |
| NC_000014.8:g.20922803T>A , CM000676.1:g.20922803T>A | GRCh37 |
| NC_000014.7:g.19992643T>A | NCBI36 |
| NG_008718.1:g.4514T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206542.9:c.40A>T MANE Select | ENSP00000206542.4:p.Ile14Phe | |
| ENST00000206542.8:c.40A>T | ENSP00000206542.4:p.Ile14Phe | |
| ENST00000553640.3:c.40A>T | ENSP00000451580.1:p.Ile14Phe | |
| ENST00000554699.1:n.150A>T | ||
| ENST00000556252.1:n.410A>T | ||
| ENST00000556439.1:n.446A>T | ||
| NM_017807.3:c.40A>T | NP_060277.1:p.Ile14Phe | |
| XM_011536930.1:c.-22A>T | XP_011535232.1:n.-22A>T | |
| XM_011536931.1:c.-257A>T | XP_011535233.1:n.-257A>T | |
| XM_011536932.1:c.-261A>T | XP_011535234.1:n.-261A>T | |
| NM_017807.4:c.40A>T MANE Select | NP_060277.1:p.Ile14Phe |