dbSNP:
Revel Score:
ENST00000426690
0.455
ENST00000380099 (MANE Select)
0.455
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.33054001T>A , CM000675.2:g.33054001T>A | GRCh38 |
| NC_000013.10:g.33628138T>A , CM000675.1:g.33628138T>A | GRCh37 |
| NC_000013.9:g.32526138T>A | NCBI36 |
| NG_011485.1:g.42568T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380099.4:c.1054T>A MANE Select | ENSP00000369442.3:p.Phe352Ile | |
| ENST00000380099.3:c.1054T>A | ENSP00000369442.3:p.Phe352Ile | |
| ENST00000487852.1:n.1062T>A | ||
| NM_004795.3:c.1054T>A | NP_004786.2:p.Phe352Ile | |
| XM_006719895.1:c.133T>A | XP_006719958.1:p.Phe45Ile | |
| XM_006719895.2:c.133T>A | XP_006719958.1:p.Phe45Ile | |
| NM_004795.4:c.1054T>A MANE Select | NP_004786.2:p.Phe352Ile |