Revel Score:
ENST00000292901
0.789
ENST00000380299
0.789
ENST00000429817
0.789
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5234034T>C , CM000673.2:g.5234034T>C | GRCh38 |
| NC_000011.9:g.5255264T>C , CM000673.1:g.5255264T>C | GRCh37 |
| NC_000011.8:g.5211840T>C | NCBI36 |
| NG_000007.3:g.63582A>G | |
| NG_063112.2:g.14624A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643122.1:c.272A>G | ENSP00000494708.1:p.Glu91Gly | |
| ENST00000650601.1:c.272A>G MANE Select | ENSP00000497529.1:p.Glu91Gly | |
| ENST00000292901.7:c.272A>G | ENSP00000292901.3:p.Glu91Gly | |
| ENST00000380299.3:c.272A>G | ENSP00000369654.3:p.Glu91Gly | |
| ENST00000417377.1:c.92+308A>G | ENSP00000414741.1:n.92+308A>G | |
| ENST00000429817.1:c.272A>G | ENSP00000393810.1:p.Glu91Gly | |
| NM_000519.3:c.272A>G | NP_000510.1:p.Glu91Gly | |
| NM_000519.4:c.272A>G MANE Select | NP_000510.1:p.Glu91Gly |