Linked Data
ClinVar Variation Id:
13837
ClinVar RCV Id:
RCV000014849
dbSNP Id:
rs121917703
ExAC:
11:69625327 A / G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69810559A>G , CM000673.2:g.69810559A>G | GRCh38 |
| NC_000011.9:g.69625327A>G , CM000673.1:g.69625327A>G | GRCh37 |
| NC_000011.8:g.69334508A>G | NCBI36 |
| NG_009016.1:g.13866T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000334134.4:c.466T>C MANE Select | ENSP00000334122.2:p.Ser156Pro | |
| ENST00000646078.1:n.313T>C | ||
| ENST00000334134.2:c.466T>C | ENSP00000334122.2:p.Ser156Pro | |
| NM_005247.2:c.466T>C | NP_005238.1:p.Ser156Pro | |
| NM_005247.3:c.466T>C | NP_005238.1:p.Ser156Pro | |
| NM_005247.4:c.466T>C MANE Select | NP_005238.1:p.Ser156Pro |