dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000520113 (MANE Select)
0.932
ENST00000369538
0.932
ENST00000353928
0.932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114677918T>A , CM000663.2:g.114677918T>A | GRCh38 |
| NC_000001.10:g.115220539T>A , CM000663.1:g.115220539T>A | GRCh37 |
| NC_000001.9:g.115022062T>A | NCBI36 |
| NG_008012.1:g.22638A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1204A>T | ENSP00000358551.4:p.Ile402Phe | |
| ENST00000520113.7:c.1216A>T MANE Select | ENSP00000430075.3:p.Ile406Phe | |
| ENST00000637080.1:c.999A>T | ENSP00000489753.1:n.999A>T | |
| ENST00000639077.1:n.881A>T | ||
| ENST00000369538.3:c.1303A>T | ENSP00000358551.3:p.Ile435Phe | |
| ENST00000520113.6:c.1315A>T | ENSP00000430075.2:p.Ile439Phe | |
| NM_000036.2:c.1315A>T | NP_000027.2:p.Ile439Phe | |
| NM_001172626.1:c.1303A>T | NP_001166097.1:p.Ile435Phe | |
| NM_000036.3:c.1216A>T MANE Select | NP_000027.3:p.Ile406Phe | |
| NM_001172626.2:c.1204A>T | NP_001166097.2:p.Ile402Phe |