Revel Score:
ENST00000368547 (MANE Select)
0.185
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133370748A>G , CM000672.2:g.133370748A>G | GRCh38 |
| NC_000010.10:g.135184252A>G , CM000672.1:g.135184252A>G | GRCh37 |
| NC_000010.9:g.135034242A>G | NCBI36 |
| NG_042077.1:g.7657T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.98T>C MANE Select | ENSP00000357535.3:p.Phe33Ser | |
| ENST00000368547.3:c.98T>C | ENSP00000357535.3:p.Phe33Ser | |
| NM_004092.3:c.98T>C | NP_004083.3:p.Phe33Ser | |
| XR_002956965.1:n.161T>C | ||
| NM_004092.4:c.98T>C MANE Select | NP_004083.3:p.Phe33Ser |