Linked Data
ClinVar Variation Id:
56263
ClinVar RCV Id:
RCV000049675
dbSNP Id:
rs386833714
gnomAD v4:
16-28487734-A-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28487734A>G , CM000678.2:g.28487734A>G | GRCh38 |
| NC_000016.9:g.28499055A>G , CM000678.1:g.28499055A>G | GRCh37 |
| NC_000016.8:g.28406556A>G | NCBI36 |
| NG_008654.2:g.9569T>C , LRG_689:g.9569T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.230T>C | ENSP00000329171.9:p.Leu77Pro | |
| ENST00000355477.10:c.302T>C | ENSP00000347660.7:p.Leu101Pro | |
| ENST00000357857.14:c.140T>C | ENSP00000350523.9:p.Leu47Pro | |
| ENST00000359984.12:c.302T>C | ENSP00000353073.9:p.Leu101Pro | |
| ENST00000360019.8:c.230T>C | ENSP00000353116.3:p.Leu77Pro | |
| ENST00000395653.9:c.133-193T>C | ENSP00000379014.5:n.133-193T>C | |
| ENST00000561505.2:c.61-193T>C | ENSP00000457615.2:n.61-193T>C | |
| ENST00000561689.6:n.587T>C | ||
| ENST00000565316.6:c.302T>C | ENSP00000456117.1:p.Leu101Pro | |
| ENST00000565778.6:c.223-193T>C | ENSP00000458015.1:n.223-193T>C | |
| ENST00000566083.6:n.760T>C | ||
| ENST00000566824.6:n.282T>C | ||
| ENST00000567495.6:c.302T>C | ENSP00000456013.2:p.Leu101Pro | |
| ENST00000567963.6:c.140T>C | ENSP00000455387.2:p.Leu47Pro | |
| ENST00000568076.6:n.429T>C | ||
| ENST00000568422.6:c.302T>C | ENSP00000455549.2:p.Leu101Pro | |
| ENST00000568443.2:c.455T>C | ENSP00000454899.2:p.Leu152Pro | |
| ENST00000568452.6:n.405T>C | ||
| ENST00000568472.6:n.468-193T>C | ||
| ENST00000568497.6:c.-293+1556T>C | ENSP00000456414.2:n.-293+1556T>C | |
| ENST00000568558.6:c.295-193T>C | ENSP00000455603.2:n.295-193T>C | |
| ENST00000569430.7:c.302T>C | ENSP00000454229.1:p.Leu101Pro | |
| ENST00000628023.3:c.222+1556T>C | ENSP00000486178.1:n.222+1556T>C | |
| ENST00000635861.1:c.133-193T>C | ENSP00000490034.1:n.133-193T>C | |
| ENST00000635887.1:c.302T>C | ENSP00000490709.1:p.Leu101Pro | |
| ENST00000635958.1:n.413T>C | ||
| ENST00000635973.1:c.126-193T>C | ENSP00000490363.1:n.126-193T>C | |
| ENST00000636017.1:c.295-193T>C | ENSP00000490538.1:n.295-193T>C | |
| ENST00000636078.1:n.344T>C | ||
| ENST00000636147.2:c.302T>C MANE Select | ENSP00000490105.1:p.Leu101Pro | |
| ENST00000636172.1:c.295-193T>C | ENSP00000490505.1:n.295-193T>C | |
| ENST00000636228.1:c.140T>C | ENSP00000489627.1:p.Leu47Pro | |
| ENST00000636351.1:n.22T>C | ||
| ENST00000636503.1:c.302T>C | ENSP00000489824.1:p.Leu101Pro | |
| ENST00000636766.1:c.302T>C | ENSP00000489841.1:p.Leu101Pro | |
| ENST00000636839.1:n.454T>C | ||
| ENST00000636853.1:n.378T>C | ||
| ENST00000636866.1:c.302T>C | ENSP00000490880.1:p.Leu101Pro | |
| ENST00000636977.1:n.1250T>C | ||
| ENST00000637100.1:c.302T>C | ENSP00000490394.1:p.Leu101Pro | |
| ENST00000637107.1:c.448-193T>C | ENSP00000490248.1:n.448-193T>C | |
| ENST00000637184.1:c.302T>C | ENSP00000489952.1:p.Leu101Pro | |
| ENST00000637299.1:c.*111T>C | ENSP00000489823.1:n.*111T>C | |
| ENST00000637376.1:c.302T>C | ENSP00000490758.1:p.Leu101Pro | |
| ENST00000637578.1:c.133-193T>C | ENSP00000490206.1:n.133-193T>C | |
| ENST00000637699.1:c.302T>C | ENSP00000490049.1:p.Leu101Pro | |
| ENST00000637871.1:c.295-193T>C | ENSP00000490670.1:n.295-193T>C | |
| ENST00000637985.1:c.*241T>C | ENSP00000490932.1:n.*241T>C | |
| ENST00000333496.13:c.230T>C | ENSP00000329171.9:p.Leu77Pro | |
| ENST00000355477.9:c.302T>C | ENSP00000347660.6:p.Leu101Pro | |
| ENST00000357806.11:c.295-193T>C | ENSP00000350457.7:n.295-193T>C | |
| ENST00000357857.13:c.140T>C | ENSP00000350523.9:p.Leu47Pro | |
| ENST00000359984.11:c.140T>C | ENSP00000353073.8:p.Leu47Pro | |
| ENST00000360019.6:c.302T>C | ENSP00000353116.2:p.Leu101Pro | |
| ENST00000395653.8:c.75-193T>C | ENSP00000379014.4:n.75-193T>C | |
| ENST00000561505.1:c.75-193T>C | ENSP00000457615.1:n.75-193T>C | |
| ENST00000561689.5:n.216-193T>C | ||
| ENST00000563874.5:n.1656T>C | ||
| ENST00000564574.5:n.350T>C | ||
| ENST00000565047.1:n.186-193T>C | ||
| ENST00000565140.5:c.302T>C | ENSP00000455342.1:p.Leu101Pro | |
| ENST00000565316.5:c.302T>C | ENSP00000456117.1:p.Leu101Pro | |
| ENST00000565688.5:c.126-193T>C | ENSP00000456122.1:n.126-193T>C | |
| ENST00000565778.5:c.223-193T>C | ENSP00000458015.1:n.223-193T>C | |
| ENST00000566057.5:c.133T>C | ENSP00000456693.1:p.Ser45Pro | |
| ENST00000566083.5:n.533T>C | ||
| ENST00000566824.5:n.424-193T>C | ||
| ENST00000567495.5:c.302T>C | ENSP00000456013.1:p.Leu101Pro | |
| ENST00000567963.5:c.302T>C | ENSP00000455387.1:p.Leu101Pro | |
| ENST00000568076.5:n.302T>C | ||
| ENST00000568224.4:c.68T>C | ENSP00000454253.1:p.Leu23Pro | |
| ENST00000568422.5:c.82T>C | ENSP00000455549.1:p.Ser28Pro | |
| ENST00000568443.1:c.455T>C | ENSP00000454899.1:p.Leu152Pro | |
| ENST00000568452.5:n.302T>C | ||
| ENST00000568472.5:n.157+1556T>C | ||
| ENST00000568497.5:c.222+1556T>C | ENSP00000456414.1:n.222+1556T>C | |
| ENST00000568558.5:c.133-193T>C | ENSP00000455603.1:n.133-193T>C | |
| ENST00000569030.5:c.302T>C | ENSP00000454680.1:p.Leu101Pro | |
| ENST00000569430.5:c.302T>C | ENSP00000454229.1:p.Leu101Pro | |
| ENST00000628023.2:c.222+1556T>C | ENSP00000486178.1:n.222+1556T>C | |
| ENST00000631023.2:c.302T>C | ENSP00000486616.1:p.Leu101Pro | |
| NM_000086.2:c.302T>C , LRG_689t1:c.302T>C | NP_000077.1:p.Leu101Pro | |
| NM_001042432.1:c.302T>C , LRG_689t2:c.302T>C | NP_001035897.1:p.Leu101Pro | |
| NM_001286104.1:c.230T>C | NP_001273033.1:p.Leu77Pro | |
| NM_001286105.1:c.75-193T>C | NP_001273034.1:n.75-193T>C | |
| NM_001286109.1:c.68T>C | NP_001273038.1:p.Leu23Pro | |
| NM_001286110.1:c.140T>C | NP_001273039.1:p.Leu47Pro | |
| NM_001042432.2:c.302T>C MANE Select | NP_001035897.1:p.Leu101Pro | |
| NM_001286104.2:c.230T>C | NP_001273033.1:p.Leu77Pro | |
| NM_001286105.2:c.75-193T>C | NP_001273034.1:n.75-193T>C | |
| NM_001286109.2:c.68T>C | NP_001273038.1:p.Leu23Pro | |
| NM_001286110.2:c.140T>C | NP_001273039.1:p.Leu47Pro |