Revel Score:
ENST00000556679
0.048
ENST00000425368 (MANE Select)
0.048
ENST00000456570
0.048
ENST00000477310
0.048
ENST00000483004
0.015
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31950691A>G , CM000668.2:g.31950691A>G | GRCh38 |
| NC_000006.11:g.31918468A>G , CM000668.1:g.31918468A>G | GRCh37 |
| NC_000006.10:g.32026447A>G | NCBI36 |
| NG_008191.1:g.9748A>G , LRG_136:g.9748A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452035.7:n.2089A>G | ||
| ENST00000483004.2:c.1481A>G | ENSP00000419887.2:p.Glu494Gly | |
| ENST00000698628.1:c.1624+288A>G | ENSP00000513848.1:n.1624+288A>G | |
| ENST00000698629.1:n.1874A>G | ||
| ENST00000698630.1:n.2413A>G | ||
| ENST00000698631.1:n.2414A>G | ||
| ENST00000698632.1:n.3208A>G | ||
| ENST00000698633.1:n.3098A>G | ||
| ENST00000698636.1:n.1919A>G | ||
| ENST00000425368.7:c.1697A>G MANE Select | ENSP00000416561.2:p.Glu566Gly | |
| ENST00000425368.6:c.1697A>G | ENSP00000416561.2:p.Glu566Gly | |
| ENST00000456570.5:c.3203A>G | ENSP00000410815.1:p.Glu1068Gly | |
| ENST00000467360.1:n.823A>G | ||
| ENST00000477310.1:c.2750A>G | ENSP00000418996.1:p.Glu917Gly | |
| ENST00000483004.1:c.319A>G | ||
| NM_001710.5:c.1697A>G , LRG_136t1:c.1697A>G | NP_001701.2:p.Glu566Gly | |
| NM_001710.6:c.1697A>G MANE Select | NP_001701.2:p.Glu566Gly |