Revel Score:
ENST00000295956 (MANE Select)
0.916
ENST00000490882
0.916
ENST00000358537
0.916
ENST00000429972
0.916
ENST00000348383
0.916
ENST00000357272
0.916
ENST00000493452
0.916
ENST00000419752
0.916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.58078724C>G , CM000665.2:g.58078724C>G | GRCh38 |
| NC_000003.11:g.58064451C>G , CM000665.1:g.58064451C>G | GRCh37 |
| NC_000003.10:g.58039491C>G | NCBI36 |
| NG_012801.1:g.75325C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682097.1:c.549C>G | ENSP00000508183.1:p.Cys183Trp | |
| ENST00000682868.1:n.692C>G | ||
| ENST00000682871.1:c.549C>G | ENSP00000507805.1:p.Cys183Trp | |
| ENST00000682987.1:n.692C>G | ||
| ENST00000683511.1:n.708C>G | ||
| ENST00000684107.1:c.549C>G | ENSP00000507440.1:p.Cys183Trp | |
| ENST00000684506.1:c.549C>G | ENSP00000507728.1:p.Cys183Trp | |
| ENST00000684517.1:c.549C>G | ENSP00000507828.1:p.Cys183Trp | |
| ENST00000684607.1:c.549C>G | ENSP00000508224.1:p.Cys183Trp | |
| ENST00000295956.9:c.549C>G MANE Select | ENSP00000295956.5:p.Cys183Trp | |
| ENST00000295956.8:c.549C>G | ENSP00000295956.4:p.Cys183Trp | |
| ENST00000358537.7:c.549C>G | ENSP00000351339.3:p.Cys183Trp | |
| ENST00000429972.6:c.549C>G | ENSP00000415599.2:p.Cys183Trp | |
| ENST00000490882.5:c.549C>G | ENSP00000420213.1:p.Cys183Trp | |
| ENST00000493452.5:c.42C>G | ENSP00000418510.1:p.Cys14Trp | |
| NM_001164317.1:c.549C>G | NP_001157789.1:p.Cys183Trp | |
| NM_001164318.1:c.549C>G | NP_001157790.1:p.Cys183Trp | |
| NM_001164319.1:c.549C>G | NP_001157791.1:p.Cys183Trp | |
| NM_001457.3:c.549C>G | NP_001448.2:p.Cys183Trp | |
| XM_005264977.1:c.549C>G | XP_005265034.1:p.Cys183Trp | |
| XM_005264978.1:c.549C>G | XP_005265035.1:p.Cys183Trp | |
| XM_005264981.1:c.549C>G | XP_005265038.1:p.Cys183Trp | |
| XR_940396.1:n.694C>G | ||
| XM_005264978.2:c.549C>G | XP_005265035.1:p.Cys183Trp | |
| XR_001740065.1:n.694C>G | ||
| XR_940396.2:n.694C>G | ||
| NM_001164317.2:c.549C>G | NP_001157789.1:p.Cys183Trp | |
| NM_001164318.2:c.549C>G | NP_001157790.1:p.Cys183Trp | |
| NM_001164319.2:c.549C>G | NP_001157791.1:p.Cys183Trp | |
| NM_001457.4:c.549C>G MANE Select | NP_001448.2:p.Cys183Trp |