Linked Data
ClinVar Variation Id:
30582
dbSNP Id:
rs387906941
ExAC:
14:51094875 C / T
gnomAD v2:
14-51094875-C-T
gnomAD v4:
14-50628157-C-T
COSMIC:
COSM1677971
PubMed:
PMID:21336785
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50628157C>T , CM000676.2:g.50628157C>T | GRCh38 |
| NC_000014.8:g.51094875C>T , CM000676.1:g.51094875C>T | GRCh37 |
| NC_000014.7:g.50164625C>T | NCBI36 |
| NG_009028.1:g.100076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553509.2:c.1246C>T | ENSP00000450989.2:p.Arg416Cys | |
| ENST00000556478.3:c.1246C>T | ENSP00000501428.2:p.Arg416Cys | |
| ENST00000682037.1:c.1246C>T | ENSP00000508289.1:p.Arg416Cys | |
| ENST00000682219.1:n.2584C>T | ||
| ENST00000683037.1:n.1167C>T | ||
| ENST00000683330.1:n.1580C>T | ||
| ENST00000358385.12:c.1246C>T MANE Select | ENSP00000351155.7:p.Arg416Cys | |
| ENST00000674288.1:c.*2538C>T | ENSP00000501522.1:n.*2538C>T | |
| ENST00000358385.10:c.1246C>T | ENSP00000351155.6:p.Arg416Cys | |
| ENST00000441560.6:c.1246C>T | ENSP00000413675.2:p.Arg416Cys | |
| NM_001127713.1:c.1246C>T | NP_001121185.1:p.Arg416Cys | |
| NM_015915.4:c.1246C>T | NP_056999.2:p.Arg416Cys | |
| NM_181598.3:c.1246C>T | NP_853629.2:p.Arg416Cys | |
| NM_015915.5:c.1246C>T MANE Select | NP_056999.2:p.Arg416Cys | |
| NM_181598.4:c.1246C>T | NP_853629.2:p.Arg416Cys |