Revel Score:
ENST00000546054
0.898
ENST00000370225 (MANE Select)
0.898
ENST00000536513
0.898
ENST00000535881
0.898
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94010858C>G , CM000663.2:g.94010858C>G | GRCh38 |
| NC_000001.10:g.94476414C>G , CM000663.1:g.94476414C>G | GRCh37 |
| NC_000001.9:g.94249002C>G | NCBI36 |
| NG_009073.1:g.115292G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.5656G>C MANE Select | ENSP00000359245.3:p.Gly1886Arg | |
| ENST00000370225.3:c.5656G>C | ENSP00000359245.3:p.Gly1886Arg | |
| ENST00000465352.1:n.72G>C | ||
| ENST00000536513.5:c.2032G>C | ENSP00000439707.2:p.Gly678Arg | |
| NM_000350.2:c.5656G>C | NP_000341.2:p.Gly1886Arg | |
| NM_000350.3:c.5656G>C MANE Select | NP_000341.2:p.Gly1886Arg |