Revel Score:
ENST00000502755
0.098
ENST00000296682 (MANE Select)
0.098
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00001779 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.23509955C>G , CM000667.2:g.23509955C>G | GRCh38 |
| NC_000005.9:g.23510064C>G , CM000667.1:g.23510064C>G | GRCh37 |
| NC_000005.8:g.23545821C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502755.6:c.229C>G | ENSP00000425471.2:p.Arg77Gly | |
| ENST00000296682.4:c.229C>G MANE Select | ENSP00000296682.4:p.Arg77Gly | |
| ENST00000296682.3:c.229C>G | ENSP00000296682.3:p.Arg77Gly | |
| ENST00000502755.5:c.229C>G | ENSP00000425471.1:p.Arg77Gly | |
| ENST00000635252.1:c.52C>G | ENSP00000489227.1:p.Arg18Gly | |
| NM_020227.2:c.229C>G | NP_064612.2:p.Arg77Gly | |
| NM_020227.3:c.229C>G | NP_064612.2:p.Arg77Gly | |
| NM_001376900.1:c.229C>G | NP_001363829.1:p.Arg77Gly | |
| NM_020227.4:c.229C>G MANE Select | NP_064612.2:p.Arg77Gly |