Linked Data
ClinVar Variation Id:
16076
ClinVar RCV Id:
RCV000017455
RCV000293644
RCV000324324
RCV000324934
RCV001154196
RCV001510498
RCV002293981
RCV002496388
RCV003974833
dbSNP Id:
rs12614
ExAC:
6:31914179 C / T
gnomAD v2:
6-31914179-C-T
gnomAD v3:
6-31946402-C-T
gnomAD v4:
6-31946402-C-T
PubMed:
PMID:21541267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31946402C>T , CM000668.2:g.31946402C>T | GRCh38 |
| NC_000006.11:g.31914179C>T , CM000668.1:g.31914179C>T | GRCh37 |
| NC_000006.10:g.32022158C>T | NCBI36 |
| NG_008191.1:g.5459C>T , LRG_136:g.5459C>T | |
| NG_011730.1:g.23914C>T , LRG_26:g.23914C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.271C>T | ||
| ENST00000483004.2:c.94C>T | ENSP00000419887.2:p.Arg32Trp | |
| ENST00000497841.6:c.94C>T | ENSP00000513847.1:p.Arg32Trp | |
| ENST00000698628.1:c.94C>T | ENSP00000513848.1:p.Arg32Trp | |
| ENST00000698629.1:n.271C>T | ||
| ENST00000698630.1:n.255C>T | ||
| ENST00000698631.1:n.250C>T | ||
| ENST00000698632.1:n.222C>T | ||
| ENST00000698633.1:n.192C>T | ||
| ENST00000698636.1:n.316C>T | ||
| ENST00000425368.7:c.94C>T MANE Select | ENSP00000416561.2:p.Arg32Trp | |
| ENST00000425368.6:c.94C>T | ENSP00000416561.2:p.Arg32Trp | |
| ENST00000452035.6:n.94C>T | ||
| ENST00000456570.5:c.1600C>T | ENSP00000410815.1:p.Arg534Trp | |
| ENST00000460718.5:c.65-84C>T | ENSP00000417793.1:n.65-84C>T | |
| ENST00000472581.1:n.341C>T | ||
| ENST00000475617.5:c.94C>T | ENSP00000420090.1:p.Arg32Trp | |
| ENST00000477310.1:c.1352-605C>T | ENSP00000418996.1:n.1352-605C>T | |
| NM_001710.5:c.94C>T , LRG_136t1:c.94C>T | NP_001701.2:p.Arg32Trp | |
| NM_001710.6:c.94C>T MANE Select | NP_001701.2:p.Arg32Trp |