Linked Data
ClinVar Variation Id:
1152286
ClinVar RCV Id:
RCV001493575
dbSNP Id:
rs2046158184
gnomAD v4:
16-28484040-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28484040G>A , CM000678.2:g.28484040G>A | GRCh38 |
| NC_000016.9:g.28495361G>A , CM000678.1:g.28495361G>A | GRCh37 |
| NC_000016.8:g.28402862G>A | NCBI36 |
| NG_008654.2:g.13263C>T , LRG_689:g.13263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333496.14:c.684C>T | ENSP00000329171.9:p.Pro228= | |
| ENST00000355477.10:c.612C>T | ENSP00000347660.7:p.Pro204= | |
| ENST00000357857.14:c.594C>T | ENSP00000350523.9:p.Pro198= | |
| ENST00000359984.12:c.756C>T | ENSP00000353073.9:p.Pro252= | |
| ENST00000360019.8:c.684C>T | ENSP00000353116.3:p.Pro228= | |
| ENST00000395653.9:c.297C>T | ENSP00000379014.5:p.Pro99= | |
| ENST00000561689.6:n.1041C>T | ||
| ENST00000564091.6:c.96C>T | ENSP00000454466.2:p.Pro32= | |
| ENST00000565316.6:c.756C>T | ENSP00000456117.1:p.Pro252= | |
| ENST00000565778.6:c.387C>T | ENSP00000458015.1:p.Pro129= | |
| ENST00000566083.6:n.1214C>T | ||
| ENST00000566824.6:n.736C>T | ||
| ENST00000567963.6:c.594C>T | ENSP00000455387.2:p.Pro198= | |
| ENST00000568076.6:n.883C>T | ||
| ENST00000568422.6:c.539C>T | ENSP00000455549.2:p.Pro180Leu | |
| ENST00000568452.6:n.859C>T | ||
| ENST00000568472.6:n.632C>T | ||
| ENST00000568497.6:c.-214C>T | ENSP00000456414.2:n.-214C>T | |
| ENST00000568558.6:c.459C>T | ENSP00000455603.2:p.Pro153= | |
| ENST00000569430.7:c.756C>T | ENSP00000454229.1:p.Pro252= | |
| ENST00000628023.3:c.*52C>T | ENSP00000486178.1:n.*52C>T | |
| ENST00000635861.1:c.*280C>T | ENSP00000490034.1:n.*280C>T | |
| ENST00000635887.1:c.756C>T | ENSP00000490709.1:p.Pro252= | |
| ENST00000635958.1:n.867C>T | ||
| ENST00000635973.1:c.507C>T | ENSP00000490363.1:p.Pro169= | |
| ENST00000636017.1:c.*280C>T | ENSP00000490538.1:n.*280C>T | |
| ENST00000636078.1:n.798C>T | ||
| ENST00000636147.2:c.756C>T MANE Select | ENSP00000490105.1:p.Pro252= | |
| ENST00000636172.1:c.*280C>T | ENSP00000490505.1:n.*280C>T | |
| ENST00000636228.1:c.450C>T | ENSP00000489627.1:p.Pro150= | |
| ENST00000636351.1:n.476C>T | ||
| ENST00000636503.1:c.756C>T | ENSP00000489824.1:p.Pro252= | |
| ENST00000636685.1:n.263C>T | ||
| ENST00000636766.1:c.756C>T | ENSP00000489841.1:p.Pro252= | |
| ENST00000636839.1:n.908C>T | ||
| ENST00000636853.1:n.1671C>T | ||
| ENST00000636866.1:c.756C>T | ENSP00000490880.1:p.Pro252= | |
| ENST00000636907.1:n.907C>T | ||
| ENST00000636977.1:n.1824C>T | ||
| ENST00000637050.1:n.843C>T | ||
| ENST00000637100.1:c.756C>T | ENSP00000490394.1:p.Pro252= | |
| ENST00000637107.1:c.*280C>T | ENSP00000490248.1:n.*280C>T | |
| ENST00000637184.1:c.756C>T | ENSP00000489952.1:p.Pro252= | |
| ENST00000637299.1:c.*565C>T | ENSP00000489823.1:n.*565C>T | |
| ENST00000637376.1:c.756C>T | ENSP00000490758.1:p.Pro252= | |
| ENST00000637578.1:c.*280C>T | ENSP00000490206.1:n.*280C>T | |
| ENST00000637699.1:c.539C>T | ENSP00000490049.1:p.Pro180Leu | |
| ENST00000637745.1:c.95C>T | ||
| ENST00000637871.1:c.*280C>T | ENSP00000490670.1:n.*280C>T | |
| ENST00000333496.13:c.684C>T | ENSP00000329171.9:p.Pro228= | |
| ENST00000355477.9:c.539C>T | ENSP00000347660.6:p.Pro180Leu | |
| ENST00000357806.11:c.459C>T | ENSP00000350457.7:p.Pro153= | |
| ENST00000357857.13:c.594C>T | ENSP00000350523.9:p.Pro198= | |
| ENST00000359984.11:c.450C>T | ENSP00000353073.8:p.Pro150= | |
| ENST00000360019.6:c.756C>T | ENSP00000353116.2:p.Pro252= | |
| ENST00000395653.8:c.456C>T | ENSP00000379014.4:p.Pro152= | |
| ENST00000561689.5:n.597C>T | ||
| ENST00000563874.5:n.2110C>T | ||
| ENST00000564574.5:n.804C>T | ||
| ENST00000565047.1:n.350C>T | ||
| ENST00000565140.5:c.539C>T | ENSP00000455342.1:p.Pro180Leu | |
| ENST00000565316.5:c.756C>T | ENSP00000456117.1:p.Pro252= | |
| ENST00000565688.5:c.507C>T | ENSP00000456122.1:p.Pro169= | |
| ENST00000565778.5:c.387C>T | ENSP00000458015.1:p.Pro129= | |
| ENST00000566057.5:c.370C>T | ENSP00000456693.1:n.370C>T | |
| ENST00000566083.5:n.987C>T | ||
| ENST00000566824.5:n.805C>T | ||
| ENST00000567495.5:c.539C>T | ENSP00000456013.1:p.Pro180Leu | |
| ENST00000567963.5:c.756C>T | ENSP00000455387.1:p.Pro252= | |
| ENST00000568076.5:n.539C>T | ||
| ENST00000568224.4:c.522C>T | ENSP00000454253.1:p.Pro174= | |
| ENST00000568422.5:c.392C>T | ENSP00000455549.1:p.Pro131Leu | |
| ENST00000568452.5:n.756C>T | ||
| ENST00000568472.5:n.236C>T | ||
| ENST00000568497.5:c.*52C>T | ENSP00000456414.1:n.*52C>T | |
| ENST00000568558.5:c.297C>T | ENSP00000455603.1:p.Pro99= | |
| ENST00000569030.5:c.461-1368C>T | ENSP00000454680.1:n.461-1368C>T | |
| ENST00000569430.5:c.756C>T | ENSP00000454229.1:p.Pro252= | |
| ENST00000628023.2:c.*52C>T | ENSP00000486178.1:n.*52C>T | |
| ENST00000631023.2:c.756C>T | ENSP00000486616.1:p.Pro252= | |
| NM_000086.2:c.756C>T , LRG_689t1:c.756C>T | NP_000077.1:p.Pro252= | |
| NM_001042432.1:c.756C>T , LRG_689t2:c.756C>T | NP_001035897.1:p.Pro252= | |
| NM_001286104.1:c.684C>T | NP_001273033.1:p.Pro228= | |
| NM_001286105.1:c.456C>T | NP_001273034.1:p.Pro152= | |
| NM_001286109.1:c.522C>T | NP_001273038.1:p.Pro174= | |
| NM_001286110.1:c.594C>T | NP_001273039.1:p.Pro198= | |
| NM_001042432.2:c.756C>T MANE Select | NP_001035897.1:p.Pro252= | |
| NM_001286104.2:c.684C>T | NP_001273033.1:p.Pro228= | |
| NM_001286105.2:c.456C>T | NP_001273034.1:p.Pro152= | |
| NM_001286109.2:c.522C>T | NP_001273038.1:p.Pro174= | |
| NM_001286110.2:c.594C>T | NP_001273039.1:p.Pro198= |