Revel Score:
ENST00000334018 (MANE Select)
0.146
ENST00000429226
0.146
ENST00000404755
0.146
ENST00000404820
0.146
ENST00000433143
0.014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29233422C>A , CM000684.2:g.29233422C>A | GRCh38 |
| NC_000022.10:g.29629411C>A , CM000684.1:g.29629411C>A | GRCh37 |
| NC_000022.9:g.27959411C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334018.11:c.867C>A MANE Select | ENSP00000335481.6:p.His289Gln | |
| ENST00000334018.10:c.867C>A | ENSP00000335481.6:p.His289Gln | |
| ENST00000404755.7:c.867C>A | ENSP00000385414.3:p.His289Gln | |
| ENST00000404820.7:c.867C>A | ENSP00000384452.3:p.His289Gln | |
| ENST00000429226.5:c.630C>A | ENSP00000403816.1:p.His210Gln | |
| ENST00000433143.1:c.455C>A | ||
| ENST00000473933.1:n.1741C>A | ||
| ENST00000484039.5:n.670C>A | ||
| ENST00000487477.1:n.77C>A | ||
| ENST00000488820.6:n.111C>A | ||
| NM_001267895.1:c.861C>A | NP_001254824.1:p.His287Gln | |
| NM_133455.3:c.867C>A | NP_597712.2:p.His289Gln | |
| XM_005261328.2:c.867C>A | XP_005261385.1:p.His289Gln | |
| XM_005261329.2:c.783C>A | XP_005261386.1:p.His261Gln | |
| XM_011529868.1:c.918C>A | XP_011528170.1:p.His306Gln | |
| XM_011529869.1:c.918C>A | XP_011528171.1:p.His306Gln | |
| XM_011529870.1:c.918C>A | XP_011528172.1:p.His306Gln | |
| XM_011529871.1:c.834C>A | XP_011528173.1:p.His278Gln | |
| XM_011529872.1:c.918C>A | XP_011528174.1:p.His306Gln | |
| XM_011529873.1:c.918C>A | XP_011528175.1:p.His306Gln | |
| XM_011529874.1:c.723C>A | XP_011528176.1:p.His241Gln | |
| XM_011529875.1:c.453C>A | XP_011528177.1:p.His151Gln | |
| XM_011529876.1:c.381C>A | XP_011528178.1:p.His127Gln | |
| XR_937808.1:n.1016C>A | ||
| XR_937809.1:n.1017C>A | ||
| XR_937810.1:n.1213C>A | ||
| XM_005261328.3:c.867C>A | XP_005261385.1:p.His289Gln | |
| XM_005261329.3:c.783C>A | XP_005261386.1:p.His261Gln | |
| XM_011529868.3:c.918C>A | XP_011528170.1:p.His306Gln | |
| XM_011529869.3:c.918C>A | XP_011528171.1:p.His306Gln | |
| XM_011529870.3:c.918C>A | XP_011528172.1:p.His306Gln | |
| XM_011529871.3:c.834C>A | XP_011528173.1:p.His278Gln | |
| XM_011529872.3:c.918C>A | XP_011528174.1:p.His306Gln | |
| XM_011529873.3:c.918C>A | XP_011528175.1:p.His306Gln | |
| XM_011529874.2:c.723C>A | XP_011528176.1:p.His241Gln | |
| XM_011529875.2:c.453C>A | XP_011528177.1:p.His151Gln | |
| XM_017028589.1:c.723C>A | XP_016884078.1:p.His241Gln | |
| XR_937808.3:n.1043C>A | ||
| XR_937809.3:n.1043C>A | ||
| XR_937810.3:n.1240C>A | ||
| NM_133455.4:c.867C>A MANE Select | NP_597712.2:p.His289Gln | |
| NM_001267895.2:c.861C>A | NP_001254824.1:p.His287Gln |