dbSNP:
Revel Score:
ENST00000163416 (MANE Select)
0.043
ENST00000355976
0.043
ENST00000439315
0.043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92810309T>G , CM000676.2:g.92810309T>G | GRCh38 |
| NC_000014.8:g.93276654T>G , CM000676.1:g.93276654T>G | GRCh37 |
| NC_000014.7:g.92346407T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000163416.7:c.1048T>G MANE Select | ENSP00000163416.2:p.Phe350Val | |
| ENST00000163416.6:c.1048T>G | ENSP00000163416.2:p.Phe350Val | |
| ENST00000555793.1:n.192T>G | ||
| XM_011537420.1:c.1048T>G | XP_011535722.1:p.Phe350Val | |
| XM_011537420.3:c.1048T>G | XP_011535722.1:p.Phe350Val | |
| NM_005113.4:c.1048T>G MANE Select | NP_005104.4:p.Phe350Val |