Revel Score:
ENST00000160827 (MANE Select)
0.775
ENST00000400751
0.775
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.29798644G>A , CM000678.2:g.29798644G>A | GRCh38 |
| NC_000016.9:g.29809965G>A , CM000678.1:g.29809965G>A | GRCh37 |
| NC_000016.8:g.29717466G>A | NCBI36 |
| NG_032055.1:g.12932G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561482.6:c.242G>A | ENSP00000454957.1:p.Arg81Gln | |
| ENST00000563263.2:n.831G>A | ||
| ENST00000563666.2:n.475G>A | ||
| ENST00000569382.3:c.446G>A | ENSP00000456165.3:p.Arg149Gln | |
| ENST00000569636.7:c.441G>A | ENSP00000457176.3:p.Ala147= | |
| ENST00000570173.6:c.*181G>A | ENSP00000455702.1:n.*181G>A | |
| ENST00000685401.1:c.446G>A | ENSP00000509077.1:p.Arg149Gln | |
| ENST00000685526.1:c.446G>A | ENSP00000510465.1:p.Arg149Gln | |
| ENST00000685961.1:c.180G>A | ||
| ENST00000686384.1:n.458G>A | ||
| ENST00000687634.1:c.180G>A | ||
| ENST00000688492.1:n.323G>A | ||
| ENST00000689089.1:c.446G>A | ENSP00000509109.1:p.Arg149Gln | |
| ENST00000689107.1:c.446G>A | ENSP00000509175.1:p.Arg149Gln | |
| ENST00000689172.1:c.446G>A | ENSP00000508827.1:p.Arg149Gln | |
| ENST00000689660.1:c.446G>A | ENSP00000509285.1:p.Arg149Gln | |
| ENST00000689743.1:n.475G>A | ||
| ENST00000690258.1:c.242G>A | ENSP00000509977.1:p.Arg81Gln | |
| ENST00000690419.1:c.446G>A | ENSP00000509446.1:p.Arg149Gln | |
| ENST00000690510.1:n.455G>A | ||
| ENST00000691128.1:c.446G>A | ENSP00000509922.1:p.Arg149Gln | |
| ENST00000691169.1:n.479G>A | ||
| ENST00000691203.1:n.456G>A | ||
| ENST00000691486.1:c.180G>A | ||
| ENST00000691895.1:c.446G>A | ENSP00000510045.1:p.Arg149Gln | |
| ENST00000693260.1:c.446G>A | ENSP00000509562.1:p.Arg149Gln | |
| ENST00000160827.9:c.446G>A MANE Select | ENSP00000160827.5:p.Arg149Gln | |
| ENST00000160827.8:c.446G>A | ENSP00000160827.4:p.Arg149Gln | |
| ENST00000400751.9:c.242G>A | ENSP00000383562.5:p.Arg81Gln | |
| ENST00000561482.5:c.242G>A | ENSP00000454957.1:p.Arg81Gln | |
| ENST00000563666.1:n.281G>A | ||
| ENST00000569382.2:c.242G>A | ENSP00000456165.2:p.Arg81Gln | |
| ENST00000569636.6:c.242G>A | ENSP00000457176.2:p.Arg81Gln | |
| ENST00000570173.5:c.*181G>A | ENSP00000455702.1:n.*181G>A | |
| NM_001256269.1:c.242G>A | NP_001243198.1:p.Arg81Gln | |
| NM_001256270.1:c.242G>A | NP_001243199.1:p.Arg81Gln | |
| NM_007317.2:c.446G>A | NP_015556.1:p.Arg149Gln | |
| XR_243280.2:n.1144G>A | ||
| XM_024450270.1:c.446G>A | XP_024306038.1:p.Arg149Gln | |
| XR_243280.4:n.472G>A | ||
| NM_001256269.2:c.242G>A | NP_001243198.1:p.Arg81Gln | |
| NM_007317.3:c.446G>A MANE Select | NP_015556.1:p.Arg149Gln |