Linked Data
ClinVar Variation Id:
56273
ClinVar RCV Id:
RCV000049685
dbSNP Id:
rs386833723
gnomAD v2:
16-28497960-C-G
gnomAD v3:
16-28486639-C-G
gnomAD v4:
16-28486639-C-G
PubMed:
PMID:21990111
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28486639C>G , CM000678.2:g.28486639C>G | GRCh38 |
| NC_000016.9:g.28497960C>G , CM000678.1:g.28497960C>G | GRCh37 |
| NC_000016.8:g.28405461C>G | NCBI36 |
| NG_008654.2:g.10664G>C , LRG_689:g.10664G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.400G>C | ENSP00000329171.9:p.Ala134Pro | |
| ENST00000355477.10:c.472G>C | ENSP00000347660.7:p.Ala158Pro | |
| ENST00000357857.14:c.310G>C | ENSP00000350523.9:p.Ala104Pro | |
| ENST00000359984.12:c.472G>C | ENSP00000353073.9:p.Ala158Pro | |
| ENST00000360019.8:c.400G>C | ENSP00000353116.3:p.Ala134Pro | |
| ENST00000395653.9:c.218+817G>C | ENSP00000379014.5:n.218+817G>C | |
| ENST00000561505.2:c.158G>C | ENSP00000457615.2:p.Arg53Pro | |
| ENST00000561689.6:n.757G>C | ||
| ENST00000565316.6:c.472G>C | ENSP00000456117.1:p.Ala158Pro | |
| ENST00000565778.6:c.308+817G>C | ENSP00000458015.1:n.308+817G>C | |
| ENST00000566083.6:n.930G>C | ||
| ENST00000566824.6:n.452G>C | ||
| ENST00000567495.6:c.461-149G>C | ENSP00000456013.2:n.461-149G>C | |
| ENST00000567963.6:c.310G>C | ENSP00000455387.2:p.Ala104Pro | |
| ENST00000568076.6:n.599G>C | ||
| ENST00000568422.6:c.460+817G>C | ENSP00000455549.2:n.460+817G>C | |
| ENST00000568443.2:c.625G>C | ENSP00000454899.2:p.Ala209Pro | |
| ENST00000568452.6:n.575G>C | ||
| ENST00000568472.6:n.553+817G>C | ||
| ENST00000568497.6:c.-292-2521G>C | ENSP00000456414.2:n.-292-2521G>C | |
| ENST00000568558.6:c.380+817G>C | ENSP00000455603.2:n.380+817G>C | |
| ENST00000569430.7:c.472G>C | ENSP00000454229.1:p.Ala158Pro | |
| ENST00000628023.3:c.223-2521G>C | ENSP00000486178.1:n.223-2521G>C | |
| ENST00000635861.1:c.230G>C | ENSP00000490034.1:p.Arg77Pro | |
| ENST00000635887.1:c.472G>C | ENSP00000490709.1:p.Ala158Pro | |
| ENST00000635958.1:n.583G>C | ||
| ENST00000635973.1:c.223G>C | ENSP00000490363.1:p.Ala75Pro | |
| ENST00000636017.1:c.392G>C | ENSP00000490538.1:p.Arg131Pro | |
| ENST00000636078.1:n.514G>C | ||
| ENST00000636147.2:c.472G>C MANE Select | ENSP00000490105.1:p.Ala158Pro | |
| ENST00000636172.1:c.392G>C | ENSP00000490505.1:p.Arg131Pro | |
| ENST00000636228.1:c.310G>C | ENSP00000489627.1:p.Ala104Pro | |
| ENST00000636351.1:n.192G>C | ||
| ENST00000636503.1:c.472G>C | ENSP00000489824.1:p.Ala158Pro | |
| ENST00000636766.1:c.472G>C | ENSP00000489841.1:p.Ala158Pro | |
| ENST00000636839.1:n.624G>C | ||
| ENST00000636853.1:n.1353G>C | ||
| ENST00000636866.1:c.472G>C | ENSP00000490880.1:p.Ala158Pro | |
| ENST00000636977.1:n.1540G>C | ||
| ENST00000637100.1:c.472G>C | ENSP00000490394.1:p.Ala158Pro | |
| ENST00000637107.1:c.545G>C | ENSP00000490248.1:p.Arg182Pro | |
| ENST00000637184.1:c.472G>C | ENSP00000489952.1:p.Ala158Pro | |
| ENST00000637299.1:c.*281G>C | ENSP00000489823.1:n.*281G>C | |
| ENST00000637376.1:c.472G>C | ENSP00000490758.1:p.Ala158Pro | |
| ENST00000637578.1:c.230G>C | ENSP00000490206.1:p.Arg77Pro | |
| ENST00000637699.1:c.460+817G>C | ENSP00000490049.1:n.460+817G>C | |
| ENST00000637871.1:c.392G>C | ENSP00000490670.1:p.Arg131Pro | |
| ENST00000637985.1:c.*411G>C | ENSP00000490932.1:n.*411G>C | |
| ENST00000333496.13:c.400G>C | ENSP00000329171.9:p.Ala134Pro | |
| ENST00000355477.9:c.460+817G>C | ENSP00000347660.6:n.460+817G>C | |
| ENST00000357806.11:c.380+817G>C | ENSP00000350457.7:n.380+817G>C | |
| ENST00000357857.13:c.310G>C | ENSP00000350523.9:p.Ala104Pro | |
| ENST00000359984.11:c.310G>C | ENSP00000353073.8:p.Ala104Pro | |
| ENST00000360019.6:c.472G>C | ENSP00000353116.2:p.Ala158Pro | |
| ENST00000395653.8:c.172G>C | ENSP00000379014.4:p.Ala58Pro | |
| ENST00000561505.1:c.172G>C | ENSP00000457615.1:p.Ala58Pro | |
| ENST00000561689.5:n.313G>C | ||
| ENST00000563874.5:n.1826G>C | ||
| ENST00000564574.5:n.520G>C | ||
| ENST00000565047.1:n.271+817G>C | ||
| ENST00000565140.5:c.460+817G>C | ENSP00000455342.1:n.460+817G>C | |
| ENST00000565316.5:c.472G>C | ENSP00000456117.1:p.Ala158Pro | |
| ENST00000565688.5:c.223G>C | ENSP00000456122.1:p.Ala75Pro | |
| ENST00000565778.5:c.308+817G>C | ENSP00000458015.1:n.308+817G>C | |
| ENST00000566057.5:c.291+817G>C | ENSP00000456693.1:n.291+817G>C | |
| ENST00000566083.5:n.703G>C | ||
| ENST00000566824.5:n.521G>C | ||
| ENST00000567495.5:c.460+817G>C | ENSP00000456013.1:n.460+817G>C | |
| ENST00000567963.5:c.472G>C | ENSP00000455387.1:p.Ala158Pro | |
| ENST00000568076.5:n.460+817G>C | ||
| ENST00000568224.4:c.238G>C | ENSP00000454253.1:p.Ala80Pro | |
| ENST00000568422.5:c.252G>C | ENSP00000455549.1:p.Ser84= | |
| ENST00000568452.5:n.472G>C | ||
| ENST00000568472.5:n.158-2521G>C | ||
| ENST00000568497.5:c.223-2521G>C | ENSP00000456414.1:n.223-2521G>C | |
| ENST00000568558.5:c.218+817G>C | ENSP00000455603.1:n.218+817G>C | |
| ENST00000569030.5:c.460+817G>C | ENSP00000454680.1:n.460+817G>C | |
| ENST00000569430.5:c.472G>C | ENSP00000454229.1:p.Ala158Pro | |
| ENST00000628023.2:c.223-2521G>C | ENSP00000486178.1:n.223-2521G>C | |
| ENST00000631023.2:c.472G>C | ENSP00000486616.1:p.Ala158Pro | |
| NM_000086.2:c.472G>C , LRG_689t1:c.472G>C | NP_000077.1:p.Ala158Pro | |
| NM_001042432.1:c.472G>C , LRG_689t2:c.472G>C | NP_001035897.1:p.Ala158Pro | |
| NM_001286104.1:c.400G>C | NP_001273033.1:p.Ala134Pro | |
| NM_001286105.1:c.172G>C | NP_001273034.1:p.Ala58Pro | |
| NM_001286109.1:c.238G>C | NP_001273038.1:p.Ala80Pro | |
| NM_001286110.1:c.310G>C | NP_001273039.1:p.Ala104Pro | |
| NM_001042432.2:c.472G>C MANE Select | NP_001035897.1:p.Ala158Pro | |
| NM_001286104.2:c.400G>C | NP_001273033.1:p.Ala134Pro | |
| NM_001286105.2:c.172G>C | NP_001273034.1:p.Ala58Pro | |
| NM_001286109.2:c.238G>C | NP_001273038.1:p.Ala80Pro | |
| NM_001286110.2:c.310G>C | NP_001273039.1:p.Ala104Pro |