Linked Data
ClinVar Variation Id:
4346
dbSNP Id:
rs119476046
gnomAD v4:
14-50613343-C-T
COSMIC:
COSM2149614
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50613343C>T , CM000676.2:g.50613343C>T | GRCh38 |
| NC_000014.8:g.51080061C>T , CM000676.1:g.51080061C>T | GRCh37 |
| NC_000014.7:g.50149811C>T | NCBI36 |
| NG_009028.1:g.85262C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553509.2:c.715C>T | ENSP00000450989.2:p.Arg239Cys | |
| ENST00000556478.3:c.715C>T | ENSP00000501428.2:p.Arg239Cys | |
| ENST00000682037.1:c.715C>T | ENSP00000508289.1:p.Arg239Cys | |
| ENST00000682219.1:n.2053C>T | ||
| ENST00000682487.1:n.1049C>T | ||
| ENST00000683037.1:n.636C>T | ||
| ENST00000683330.1:n.1049C>T | ||
| ENST00000683837.1:n.1049C>T | ||
| ENST00000358385.12:c.715C>T MANE Select | ENSP00000351155.7:p.Arg239Cys | |
| ENST00000674288.1:c.*2007C>T | ENSP00000501522.1:n.*2007C>T | |
| ENST00000358385.10:c.715C>T | ENSP00000351155.6:p.Arg239Cys | |
| ENST00000441560.6:c.715C>T | ENSP00000413675.2:p.Arg239Cys | |
| NM_001127713.1:c.715C>T | NP_001121185.1:p.Arg239Cys | |
| NM_015915.4:c.715C>T | NP_056999.2:p.Arg239Cys | |
| NM_181598.3:c.715C>T | NP_853629.2:p.Arg239Cys | |
| NM_015915.5:c.715C>T MANE Select | NP_056999.2:p.Arg239Cys | |
| NM_181598.4:c.715C>T | NP_853629.2:p.Arg239Cys |