Linked Data
ClinVar Variation Id:
126970
ClinVar RCV Id:
RCV000114830
dbSNP Id:
rs121908827
PubMed:
PMID:21156949
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96254107A>G , CM000664.2:g.96254107A>G | GRCh38 |
| NC_000002.11:g.96919845A>G , CM000664.1:g.96919845A>G | GRCh37 |
| NC_000002.10:g.96283572A>G | NCBI36 |
| NG_027695.1:g.16907T>C , LRG_528:g.16907T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.418T>C MANE Select | ENSP00000258439.3:p.Cys140Arg | |
| ENST00000258439.7:c.418T>C | ENSP00000258439.2:p.Cys140Arg | |
| ENST00000432959.1:c.418T>C | ENSP00000416660.1:p.Cys140Arg | |
| ENST00000435268.1:c.166T>C | ENSP00000411810.1:p.Cys56Arg | |
| NM_001193304.2:c.418T>C | NP_001180233.1:p.Cys140Arg | |
| NM_017849.3:c.418T>C , LRG_528t1:c.418T>C | NP_060319.1:p.Cys140Arg | |
| XM_017004450.1:c.-501T>C | XP_016859939.1:n.-501T>C | |
| XM_017004452.1:c.166T>C | XP_016859941.1:p.Cys56Arg | |
| NM_001193304.3:c.418T>C | NP_001180233.1:p.Cys140Arg | |
| NM_017849.4:c.418T>C MANE Select | NP_060319.1:p.Cys140Arg |