Linked Data
ClinVar Variation Id:
2736362
ClinVar RCV Id:
RCV003559923
dbSNP Id:
rs281865497
ExAC:
16:66547689 A / G
gnomAD v2:
16-66547689-A-G
gnomAD v4:
16-66513786-A-G
PubMed:
PMID:23230576
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.66513786A>G , CM000678.2:g.66513786A>G | GRCh38 |
| NC_000016.9:g.66547689A>G , CM000678.1:g.66547689A>G | GRCh37 |
| NC_000016.8:g.65105190A>G | NCBI36 |
| NG_016862.1:g.41627T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299697.12:c.476T>C | ENSP00000299697.9:p.Leu159Pro | |
| ENST00000417693.8:c.590T>C | ENSP00000407469.5:p.Leu197Pro | |
| ENST00000451102.7:c.551T>C | ENSP00000414334.4:p.Leu184Pro | |
| ENST00000527284.6:c.563-1720T>C | ||
| ENST00000527800.6:c.353T>C | ENSP00000433770.1:p.Leu118Pro | |
| ENST00000544898.6:c.644T>C MANE Select | ENSP00000440898.2:p.Leu215Pro | |
| ENST00000567357.6:c.*502T>C | ENSP00000457959.2:n.*502T>C | |
| ENST00000569718.6:c.382T>C | ENSP00000464313.2:p.Ser128Pro | |
| ENST00000620035.5:c.400T>C | ENSP00000483833.2:p.Ser134Pro | |
| ENST00000676538.1:c.227T>C | ||
| ENST00000676904.1:c.115T>C | ||
| ENST00000677296.1:n.26T>C | ||
| ENST00000677379.1:c.285T>C | ENSP00000503672.1:n.285T>C | |
| ENST00000677420.1:c.353T>C | ENSP00000504648.1:p.Leu118Pro | |
| ENST00000677555.1:c.353T>C | ENSP00000503331.1:p.Leu118Pro | |
| ENST00000677715.1:c.353T>C | ENSP00000502950.1:p.Leu118Pro | |
| ENST00000677753.1:n.26T>C | ||
| ENST00000677961.1:n.56T>C | ||
| ENST00000678015.1:c.353T>C | ENSP00000502959.1:p.Leu118Pro | |
| ENST00000678190.1:c.26T>C | ENSP00000503824.1:p.Leu9Pro | |
| ENST00000678282.1:n.26T>C | ||
| ENST00000678297.1:c.353T>C | ENSP00000503472.1:p.Leu118Pro | |
| ENST00000299697.11:c.644T>C | ENSP00000299697.8:p.Leu215Pro | |
| ENST00000417693.7:c.716T>C | ENSP00000407469.4:p.Leu239Pro | |
| ENST00000451102.6:c.770T>C | ENSP00000414334.3:p.Leu257Pro | |
| ENST00000525974.5:c.353T>C | ENSP00000434594.1:p.Leu118Pro | |
| ENST00000527284.5:c.551T>C | ENSP00000435312.1:p.Leu184Pro | |
| ENST00000527800.5:c.353T>C | ENSP00000433770.1:p.Leu118Pro | |
| ENST00000544898.5:c.644T>C | ENSP00000440898.2:p.Leu215Pro | |
| ENST00000545043.6:c.569T>C | ENSP00000438143.2:p.Leu190Pro | |
| ENST00000561527.5:n.203T>C | ||
| ENST00000561728.1:c.93T>C | ||
| ENST00000562552.5:n.460T>C | ||
| ENST00000563099.5:n.171T>C | ||
| ENST00000563369.6:c.353T>C | ENSP00000463560.1:p.Leu118Pro | |
| ENST00000563478.5:c.353T>C | ENSP00000462341.1:p.Leu118Pro | |
| ENST00000564792.1:n.299T>C | ||
| ENST00000564917.5:c.695T>C | ENSP00000455187.1:p.Leu232Pro | |
| ENST00000567357.5:c.*502T>C | ENSP00000457959.1:n.*502T>C | |
| ENST00000569718.5:c.369T>C | ||
| ENST00000620035.4:c.590T>C | ENSP00000483833.1:p.Leu197Pro | |
| NM_001172643.1:c.551T>C | NP_001166114.1:p.Leu184Pro | |
| NM_001172644.1:c.569T>C | NP_001166115.1:p.Leu190Pro | |
| NM_001172645.1:c.590T>C | NP_001166116.1:p.Leu197Pro | |
| NM_001271934.1:c.497T>C | NP_001258863.1:p.Leu166Pro | |
| NM_001271935.1:c.382T>C | NP_001258864.1:p.Ser128Pro | |
| NM_001272050.1:c.353T>C | NP_001258979.1:p.Leu118Pro | |
| NM_004614.4:c.644T>C | NP_004605.4:p.Leu215Pro | |
| NR_073520.1:n.1923T>C | ||
| NM_001172644.2:c.569T>C | NP_001166115.1:p.Leu190Pro | |
| NM_001271934.2:c.497T>C | NP_001258863.1:p.Leu166Pro | |
| NM_001272050.2:c.353T>C | NP_001258979.1:p.Leu118Pro | |
| NM_004614.5:c.644T>C MANE Select | NP_004605.4:p.Leu215Pro | |
| NR_073520.2:n.1633T>C | ||
| NM_001172645.2:c.590T>C | NP_001166116.1:p.Leu197Pro |