Revel Score:
ENST00000345060 (MANE Select)
0.526
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965806A>T , CM000670.2:g.37965806A>T | GRCh38 |
| NC_000008.10:g.37823324A>T , CM000670.1:g.37823324A>T | GRCh37 |
| NC_000008.9:g.37942481A>T | NCBI36 |
| NG_011936.1:g.5861T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.664T>A MANE Select | ENSP00000343782.3:p.Phe222Ile | |
| ENST00000520341.2:n.792T>A | ||
| ENST00000647937.1:c.148T>A | ENSP00000497740.1:p.Phe50Ile | |
| ENST00000345060.4:c.664T>A | ENSP00000343782.3:p.Phe222Ile | |
| ENST00000614635.1:c.664T>A | ENSP00000480325.1:p.Phe222Ile | |
| NM_000025.2:c.664T>A | NP_000016.1:p.Phe222Ile | |
| NM_000025.3:c.664T>A MANE Select | NP_000016.1:p.Phe222Ile |