Revel Score:
ENST00000368061 (MANE Select)
0.727
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160421171C>G , CM000663.2:g.160421171C>G | GRCh38 |
| NC_000001.10:g.160390961C>G , CM000663.1:g.160390961C>G | GRCh37 |
| NC_000001.9:g.158657585C>G | NCBI36 |
| NG_023420.1:g.25598C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696602.1:c.1201C>G | ENSP00000512747.1:p.Arg401Gly | |
| ENST00000368061.3:c.1057C>G MANE Select | ENSP00000357040.2:p.Arg353Gly | |
| ENST00000368061.2:c.1057C>G | ENSP00000357040.2:p.Arg353Gly | |
| ENST00000483408.1:n.237C>G | ||
| NM_020335.2:c.1057C>G | NP_065068.1:p.Arg353Gly | |
| XM_005245357.1:c.1057C>G | XP_005245414.1:p.Arg353Gly | |
| XM_011509804.1:c.1057C>G | XP_011508106.1:p.Arg353Gly | |
| NM_020335.3:c.1057C>G MANE Select | NP_065068.1:p.Arg353Gly |