Revel Score:
ENST00000155840 (MANE Select)
0.842
ENST00000335475
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2585278C>G , CM000673.2:g.2585278C>G | GRCh38 |
| NC_000011.9:g.2606508C>G , CM000673.1:g.2606508C>G | GRCh37 |
| NC_000011.8:g.2563084C>G | NCBI36 |
| NG_008935.1:g.145288C>G , LRG_287:g.145288C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.771+1733C>G | ENSP00000434560.2:n.771+1733C>G | |
| ENST00000646564.2:c.588+1733C>G | ENSP00000495806.2:n.588+1733C>G | |
| ENST00000155840.12:c.1099C>G MANE Select | ENSP00000155840.2:p.Gln367Glu | |
| ENST00000335475.6:c.718C>G | ENSP00000334497.5:p.Gln240Glu | |
| ENST00000646564.1:c.234+1733C>G | ENSP00000495806.1:n.234+1733C>G | |
| ENST00000155840.9:c.1099C>G | ENSP00000155840.2:p.Gln367Glu | |
| ENST00000335475.5:c.718C>G | ENSP00000334497.5:p.Gln240Glu | |
| NM_000218.2:c.1099C>G , LRG_287t1:c.1099C>G | NP_000209.2:p.Gln367Glu | |
| NM_181798.1:c.718C>G , LRG_287t2:c.718C>G | NP_861463.1:p.Gln240Glu | |
| NM_000218.3:c.1099C>G MANE Select | NP_000209.2:p.Gln367Glu |