Revel Score:
ENST00000429644 (MANE Select)
0.538
ENST00000264326
0.538
ENST00000489715
0.538
ENST00000536832
0.538
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.81594016T>A , CM000665.2:g.81594016T>A | GRCh38 |
| NC_000003.11:g.81643167T>A , CM000665.1:g.81643167T>A | GRCh37 |
| NC_000003.10:g.81725857T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000429644.7:c.1000A>T MANE Select | ENSP00000410833.2:p.Ile334Phe | |
| ENST00000429644.6:c.1000A>T | ENSP00000410833.2:p.Ile334Phe | |
| ENST00000489715.1:c.877A>T | ENSP00000419638.1:p.Ile293Phe | |
| NM_000158.4:c.1000A>T MANE Select | NP_000149.4:p.Ile334Phe |