Revel Score:
ENST00000301071 (MANE Select)
0.848
ENST00000552597
0.848
ENST00000548405
0.848
ENST00000295766
0.848
ENST00000550767
0.848
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49185162G>A , CM000674.2:g.49185162G>A | GRCh38 |
| NC_000012.11:g.49578945G>A , CM000674.1:g.49578945G>A | GRCh37 |
| NC_000012.10:g.47865212G>A | NCBI36 |
| NG_008966.1:g.8917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.1204C>T MANE Select | ENSP00000301071.7:p.Arg402Cys | |
| ENST00000547939.6:c.1099C>T | ENSP00000450268.2:p.Arg367Cys | |
| ENST00000550767.6:c.1099C>T | ENSP00000446637.1:p.Arg367Cys | |
| ENST00000550811.2:n.2237C>T | ||
| ENST00000552924.2:c.1099C>T | ENSP00000448725.2:p.Arg367Cys | |
| ENST00000679733.1:c.*660C>T | ENSP00000505459.1:n.*660C>T | |
| ENST00000295766.9:c.1204C>T | ENSP00000439020.2:p.Arg402Cys | |
| ENST00000301071.11:c.1204C>T | ENSP00000301071.7:p.Arg402Cys | |
| ENST00000550767.5:c.1099C>T | ENSP00000446637.1:p.Arg367Cys | |
| NM_001270399.1:c.1204C>T | NP_001257328.1:p.Arg402Cys | |
| NM_001270400.1:c.1099C>T | NP_001257329.1:p.Arg367Cys | |
| NM_006009.3:c.1204C>T | NP_006000.2:p.Arg402Cys | |
| NM_006009.4:c.1204C>T MANE Select | NP_006000.2:p.Arg402Cys | |
| NM_001270399.2:c.1204C>T | NP_001257328.1:p.Arg402Cys | |
| NM_001270400.2:c.1099C>T | NP_001257329.1:p.Arg367Cys |