Revel Score:
ENST00000395339
0.070
ENST00000374882 (MANE Select)
0.070
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32843852G>C , CM000668.2:g.32843852G>C | GRCh38 |
| NC_000006.11:g.32811629G>C , CM000668.1:g.32811629G>C | GRCh37 |
| NC_000006.10:g.32919607G>C | NCBI36 |
| NG_011759.1:g.15120C>G | |
| NG_028165.1:g.6084C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650793.2:n.166C>G | ||
| ENST00000697612.1:n.84C>G | ||
| ENST00000374881.3:c.135+427C>G | ENSP00000364015.2:n.135+427C>G | |
| ENST00000374882.8:c.145C>G MANE Select | ENSP00000364016.4:p.Gln49Glu | |
| ENST00000650411.1:n.706C>G | ||
| ENST00000650793.1:n.166C>G | ||
| ENST00000374881.2:c.135+427C>G | ENSP00000364015.2:n.135+427C>G | |
| ENST00000374882.7:c.145C>G | ENSP00000364016.3:p.Gln49Glu | |
| ENST00000395339.7:c.145C>G | ENSP00000378748.3:p.Gln49Glu | |
| ENST00000484003.1:n.373+427C>G | ||
| NM_004159.4:c.135+427C>G | NP_004150.1:n.135+427C>G | |
| NM_148919.3:c.145C>G | NP_683720.2:p.Gln49Glu | |
| NM_148919.4:c.145C>G MANE Select | NP_683720.2:p.Gln49Glu | |
| NM_004159.5:c.135+427C>G | NP_004150.1:n.135+427C>G |