Revel Score:
ENST00000260302 (MANE Select)
0.803
ENST00000546012
0.803
ENST00000340273
0.803
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102955393A>G , CM000673.2:g.102955393A>G | GRCh38 |
| NC_000011.9:g.102826122A>G , CM000673.1:g.102826122A>G | GRCh37 |
| NC_000011.8:g.102331332A>G | NCBI36 |
| NG_021404.1:g.5342T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260302.8:c.221T>C MANE Select | ENSP00000260302.3:p.Phe74Ser | |
| ENST00000260302.7:c.221T>C | ENSP00000260302.3:p.Phe74Ser | |
| ENST00000340273.4:c.221T>C | ENSP00000339672.4:p.Phe74Ser | |
| ENST00000615555.4:c.221T>C | ENSP00000482883.1:p.Phe74Ser | |
| NM_002427.3:c.221T>C | NP_002418.1:p.Phe74Ser | |
| NM_002427.4:c.221T>C MANE Select | NP_002418.1:p.Phe74Ser |