dbSNP:
Revel Score:
ENST00000520113 (MANE Select)
0.851
ENST00000369538
0.851
ENST00000353928
0.851
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677915T>A , CM000663.2:g.114677915T>A | GRCh38 |
| NC_000001.10:g.115220536T>A , CM000663.1:g.115220536T>A | GRCh37 |
| NC_000001.9:g.115022059T>A | NCBI36 |
| NG_008012.1:g.22641A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1207A>T | ENSP00000358551.4:p.Ile403Phe | |
| ENST00000520113.7:c.1219A>T MANE Select | ENSP00000430075.3:p.Ile407Phe | |
| ENST00000637080.1:c.1002A>T | ENSP00000489753.1:n.1002A>T | |
| ENST00000639077.1:n.884A>T | ||
| ENST00000369538.3:c.1306A>T | ENSP00000358551.3:p.Ile436Phe | |
| ENST00000520113.6:c.1318A>T | ENSP00000430075.2:p.Ile440Phe | |
| NM_000036.2:c.1318A>T | NP_000027.2:p.Ile440Phe | |
| NM_001172626.1:c.1306A>T | NP_001166097.1:p.Ile436Phe | |
| NM_000036.3:c.1219A>T MANE Select | NP_000027.3:p.Ile407Phe | |
| NM_001172626.2:c.1207A>T | NP_001166097.2:p.Ile403Phe |