Revel Score:
ENST00000222747 (MANE Select)
0.969
ENST00000415871
0.969
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.120806619C>A , CM000669.2:g.120806619C>A | GRCh38 |
| NC_000007.13:g.120446673C>A , CM000669.1:g.120446673C>A | GRCh37 |
| NC_000007.12:g.120233909C>A | NCBI36 |
| NG_023203.1:g.56505G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222747.8:c.542G>T MANE Select | ENSP00000222747.3:p.Cys181Phe | |
| ENST00000222747.7:c.542G>T | ENSP00000222747.3:p.Cys181Phe | |
| ENST00000415871.5:c.542G>T | ENSP00000397699.1:p.Cys181Phe | |
| ENST00000450414.5:c.521G>T | ENSP00000397411.1:n.521G>T | |
| NM_012338.3:c.542G>T | NP_036470.1:p.Cys181Phe | |
| XM_005250239.1:c.542G>T | XP_005250296.1:p.Cys181Phe | |
| XM_011515993.1:c.542G>T | XP_011514295.1:p.Cys181Phe | |
| XM_011515994.1:c.542G>T | XP_011514296.1:p.Cys181Phe | |
| XM_005250239.3:c.542G>T | XP_005250296.1:p.Cys181Phe | |
| XM_017011913.1:c.467G>T | XP_016867402.1:p.Cys156Phe | |
| NM_012338.4:c.542G>T MANE Select | NP_036470.1:p.Cys181Phe |