Revel Score:
ENST00000433777
0.234
ENST00000227667 (MANE Select)
0.234
ENST00000375345
0.234
gnomAD v2:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830637C>G , CM000673.2:g.116830637C>G | GRCh38 |
| NC_000011.9:g.116701353C>G , CM000673.1:g.116701353C>G | GRCh37 |
| NC_000011.8:g.116206563C>G | NCBI36 |
| NG_008949.1:g.5730C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.55C>G MANE Select | ENSP00000227667.2:p.Arg19Gly | |
| ENST00000227667.7:c.55C>G | ENSP00000227667.2:p.Arg19Gly | |
| ENST00000375345.3:c.109C>G | ENSP00000364494.1:p.Arg37Gly | |
| ENST00000433777.5:c.55C>G | ENSP00000410614.1:p.Arg19Gly | |
| ENST00000470144.1:n.87C>G | ||
| ENST00000630701.1:c.109C>G | ENSP00000486182.1:p.Arg37Gly | |
| NM_000040.1:c.55C>G | NP_000031.1:p.Arg19Gly | |
| NM_000040.2:c.55C>G | NP_000031.1:p.Arg19Gly | |
| NM_000040.3:c.55C>G MANE Select | NP_000031.1:p.Arg19Gly |