Linked Data
ClinVar Variation Id:
161652
ClinVar RCV Id:
RCV000149188
dbSNP Id:
rs193921011
COSMIC:
COSM1178831
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.100091134A>C , CM000669.2:g.100091134A>C | GRCh38 |
| NC_000007.13:g.99688757A>C , CM000669.1:g.99688757A>C | GRCh37 |
| NC_000007.12:g.99526693A>C | NCBI36 |
| NG_046973.1:g.7175A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303904.8:c.631A>C MANE Select | ENSP00000304102.3:p.Ser211Arg | |
| ENST00000303904.7:c.631A>C | ENSP00000304102.3:p.Ser211Arg | |
| ENST00000418625.5:c.628A>C | ENSP00000400617.1:p.Ser210Arg | |
| ENST00000426712.1:c.268A>C | ENSP00000413702.1:p.Ser90Arg | |
| ENST00000468499.5:n.631A>C | ||
| ENST00000474823.5:n.438A>C | ||
| ENST00000483891.1:n.594A>C | ||
| NM_006833.4:c.631A>C | NP_006824.2:p.Ser211Arg | |
| NM_006833.5:c.631A>C MANE Select | NP_006824.2:p.Ser211Arg |