COSMIC:
COSM3754317 (not active)
Revel Score:
ENST00000356231 (MANE Select)
0.247
ENST00000267892
0.247
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.4313929 (AFR)
Genomes Max Group AF
0.42575516 (AFR)
Exomes Max Group AF
0.43473007 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42728785G>A , CM000677.2:g.42728785G>A | GRCh38 |
| NC_000015.9:g.43020983G>A , CM000677.1:g.43020983G>A | GRCh37 |
| NC_000015.8:g.40808275G>A | NCBI36 |
| NG_012491.1:g.13435C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356231.4:c.2671C>T MANE Select | ENSP00000348564.3:p.Arg891Cys | |
| ENST00000643434.1:c.*1849C>T | ENSP00000494699.1:n.*1849C>T | |
| ENST00000356231.3:c.2671C>T | ENSP00000348564.3:p.Arg891Cys | |
| ENST00000562465.5:c.664C>T | ENSP00000454246.1:p.Arg222Cys | |
| NM_138477.2:c.2671C>T | NP_612486.2:p.Arg891Cys | |
| XM_005254176.3:c.2674C>T | XP_005254233.1:p.Arg892Cys | |
| XM_011521270.1:c.2698C>T | XP_011519572.1:p.Arg900Cys | |
| XM_011521271.1:c.2695C>T | XP_011519573.1:p.Arg899Cys | |
| XM_011521272.1:c.2698C>T | XP_011519574.1:p.Arg900Cys | |
| XM_011521273.1:c.2698C>T | XP_011519575.1:p.Arg900Cys | |
| XM_011521274.1:c.1663C>T | XP_011519576.1:p.Arg555Cys | |
| XM_011521275.1:c.1915C>T | XP_011519577.1:p.Arg639Cys | |
| NM_138477.4:c.2671C>T MANE Select | NP_612486.2:p.Arg891Cys | |
| XM_005254176.5:c.2674C>T | XP_005254233.1:p.Arg892Cys | |
| XM_011521270.2:c.2698C>T | XP_011519572.1:p.Arg900Cys | |
| XM_011521271.2:c.2695C>T | XP_011519573.1:p.Arg899Cys | |
| XM_011521274.2:c.1663C>T | XP_011519576.1:p.Arg555Cys | |
| XR_001751104.1:n.2728C>T | ||
| XR_001751105.1:n.2728C>T |