ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000878 (NFE)
Exomes Max Group AF
0.00000931 (NFE)
Revel Score:
ENST00000334909
0.900
ENST00000352480 (MANE Select)
0.900
ENST00000372394
0.900
ENST00000372393
0.900
ENST00000372386
0.900
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480425C>T , CM000671.2:g.130480425C>T | GRCh38 |
| NC_000009.11:g.133355812C>T , CM000671.1:g.133355812C>T | GRCh37 |
| NC_000009.10:g.132345633C>T | NCBI36 |
| NG_011542.1:g.40719C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.814C>T MANE Select | ENSP00000253004.6:p.Arg272Cys | |
| ENST00000352480.9:c.814C>T | ENSP00000253004.6:p.Arg272Cys | |
| ENST00000372386.6:n.85C>T | ||
| ENST00000372393.7:c.814C>T | ENSP00000361469.2:p.Arg272Cys | |
| ENST00000372394.5:c.814C>T | ENSP00000361471.1:p.Arg272Cys | |
| ENST00000470849.4:n.539C>T | ||
| ENST00000492400.5:n.323C>T | ||
| ENST00000493984.6:n.591C>T | ||
| NM_000050.4:c.814C>T | NP_000041.2:p.Arg272Cys | |
| NM_054012.3:c.814C>T | NP_446464.1:p.Arg272Cys | |
| XM_005272200.2:c.814C>T | XP_005272257.1:p.Arg272Cys | |
| XM_011518705.1:c.928C>T | XP_011517007.1:p.Arg310Cys | |
| XM_005272200.3:c.814C>T | XP_005272257.1:p.Arg272Cys | |
| XM_011518705.2:c.928C>T | XP_011517007.1:p.Arg310Cys | |
| XM_017014729.1:c.910C>T | XP_016870218.1:p.Arg304Cys | |
| NM_054012.4:c.814C>T MANE Select | NP_446464.1:p.Arg272Cys |