Linked Data
ClinVar Variation Id:
427633
ClinVar RCV Id:
RCV000490624
dbSNP Id:
rs1114167429
PubMed:
PMID:27264673
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.28776964G>C , CM000664.2:g.28776964G>C | GRCh38 |
| NC_000002.11:g.28999830G>C , CM000664.1:g.28999830G>C | GRCh37 |
| NC_000002.10:g.28853334G>C | NCBI36 |
| NG_052878.1:g.30217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000418910.2:c.166G>C | ENSP00000388056.2:p.Ala56Pro | |
| ENST00000420282.6:c.166G>C | ENSP00000398839.2:p.Ala56Pro | |
| ENST00000427786.2:c.82G>C | ENSP00000394589.1:p.Ala28Pro | |
| ENST00000441461.6:c.166G>C | ENSP00000414918.2:p.Ala56Pro | |
| ENST00000455580.6:c.82G>C | ENSP00000390715.2:p.Ala28Pro | |
| ENST00000703171.1:c.166G>C | ENSP00000515217.1:p.Ala56Pro | |
| ENST00000703172.1:c.82G>C | ENSP00000515218.1:p.Ala28Pro | |
| ENST00000703173.1:c.166G>C | ENSP00000515219.1:p.Ala56Pro | |
| ENST00000703174.1:c.166G>C | ENSP00000515220.1:p.Ala56Pro | |
| ENST00000703176.1:c.133G>C | ENSP00000515221.1:p.Ala45Pro | |
| ENST00000703177.1:c.82G>C | ENSP00000515222.1:p.Ala28Pro | |
| ENST00000395366.3:c.166G>C MANE Select | ENSP00000378769.2:p.Ala56Pro | |
| ENST00000296122.10:c.166G>C | ENSP00000296122.6:p.Ala56Pro | |
| ENST00000358506.6:c.166G>C | ENSP00000351298.2:p.Ala56Pro | |
| ENST00000395366.2:c.166G>C | ENSP00000378769.2:p.Ala56Pro | |
| ENST00000420282.5:c.166G>C | ENSP00000398839.1:p.Ala56Pro | |
| ENST00000427786.1:c.82G>C | ENSP00000394589.1:p.Ala28Pro | |
| ENST00000441461.5:c.166G>C | ENSP00000414918.1:p.Ala56Pro | |
| ENST00000455580.5:c.82G>C | ENSP00000390715.1:p.Ala28Pro | |
| ENST00000464273.1:n.280G>C | ||
| NM_002709.2:c.166G>C | NP_002700.1:p.Ala56Pro | |
| NM_206876.1:c.166G>C | NP_996759.1:p.Ala56Pro | |
| NM_002709.3:c.166G>C MANE Select | NP_002700.1:p.Ala56Pro | |
| NM_206876.2:c.166G>C | NP_996759.1:p.Ala56Pro |