Revel Score:
ENST00000340482
0.733
ENST00000225275 (MANE Select)
0.733
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.58272835G>C , CM000679.2:g.58272835G>C | GRCh38 |
| NC_000017.10:g.56350196G>C , CM000679.1:g.56350196G>C | GRCh37 |
| NC_000017.9:g.53705195G>C | NCBI36 |
| NG_009629.1:g.13101C>G , LRG_84:g.13101C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000578493.2:n.1038C>G | ||
| ENST00000699291.1:c.830C>G | ENSP00000514272.1:n.830C>G | |
| ENST00000699292.1:n.1240C>G | ||
| ENST00000225275.4:c.1705C>G MANE Select | ENSP00000225275.3:p.Arg569Gly | |
| ENST00000225275.3:c.1705C>G | ENSP00000225275.3:p.Arg569Gly | |
| ENST00000577220.1:c.163C>G | ENSP00000464668.1:p.Arg55Gly | |
| NM_000250.1:c.1705C>G , LRG_84t1:c.1705C>G | NP_000241.1:p.Arg569Gly | |
| XM_011524821.1:c.1891C>G | XP_011523123.1:p.Arg631Gly | |
| XM_011524822.1:c.1420C>G | XP_011523124.1:p.Arg474Gly | |
| NM_000250.2:c.1705C>G MANE Select | NP_000241.1:p.Arg569Gly |