Linked Data
ClinVar Variation Id:
224740
ClinVar RCV Id:
RCV000210285
dbSNP Id:
rs869312176
gnomAD v2:
15-31358296-A-G
gnomAD v4:
15-31066093-A-G
PubMed:
PMID:26872967
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.31066093A>G , CM000677.2:g.31066093A>G | GRCh38 |
| NC_000015.9:g.31358296A>G , CM000677.1:g.31358296A>G | GRCh37 |
| NC_000015.8:g.29145588A>G | NCBI36 |
| NG_016453.1:g.40629T>C | |
| NG_016453.2:g.100181T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000711434.1:c.707T>C | ENSP00000518752.1:p.Leu236Pro | |
| ENST00000397795.7:c.707T>C | ENSP00000380897.2:p.Leu236Pro | |
| ENST00000558445.6:c.824T>C | ENSP00000452946.2:p.Leu275Pro | |
| ENST00000559177.6:c.544+1786T>C | ENSP00000453477.2:n.544+1786T>C | |
| ENST00000256552.11:c.773T>C MANE Select | ENSP00000256552.7:p.Leu258Pro | |
| ENST00000256552.10:c.773T>C | ENSP00000256552.6:p.Leu258Pro | |
| ENST00000397795.6:c.707T>C | ENSP00000380897.2:p.Leu236Pro | |
| ENST00000542188.5:c.824T>C | ENSP00000437849.1:p.Leu275Pro | |
| ENST00000558445.5:c.707T>C | ENSP00000452946.1:p.Leu236Pro | |
| ENST00000558768.5:c.494T>C | ENSP00000453119.2:p.Leu165Pro | |
| ENST00000559177.5:c.427+1786T>C | ENSP00000453477.1:n.427+1786T>C | |
| ENST00000560658.5:c.707T>C | ENSP00000454077.1:p.Leu236Pro | |
| ENST00000560801.5:c.494T>C | ENSP00000453644.2:p.Leu165Pro | |
| NM_001252020.1:c.824T>C | NP_001238949.1:p.Leu275Pro | |
| NM_001252024.1:c.773T>C | NP_001238953.1:p.Leu258Pro | |
| NM_002420.5:c.707T>C | NP_002411.3:p.Leu236Pro | |
| NM_001252024.2:c.773T>C MANE Select | NP_001238953.1:p.Leu258Pro | |
| NM_002420.6:c.707T>C | NP_002411.3:p.Leu236Pro | |
| NM_001252020.2:c.824T>C | NP_001238949.1:p.Leu275Pro |