Revel Score:
ENST00000358433 (MANE Select)
0.223
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.55295193C>G , CM000674.2:g.55295193C>G | GRCh38 |
| NC_000012.11:g.55688977C>G , CM000674.1:g.55688977C>G | GRCh37 |
| NC_000012.10:g.53975244C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358433.3:c.40G>C MANE Select | ENSP00000351211.2:p.Gly14Arg | |
| ENST00000358433.2:c.40G>C | ENSP00000351211.2:p.Gly14Arg | |
| NM_001005493.1:c.40G>C | NP_001005493.1:p.Gly14Arg | |
| NM_001005493.2:c.40G>C MANE Select | NP_001005493.1:p.Gly14Arg |