Linked Data
ClinVar Variation Id:
293244
dbSNP Id:
rs72714915
gnomAD v2:
1-161136343-C-G
gnomAD v3:
1-161166553-C-G
gnomAD v4:
1-161166553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161166553C>G , CM000663.2:g.161166553C>G | GRCh38 |
| NC_000001.10:g.161136343C>G , CM000663.1:g.161136343C>G | GRCh37 |
| NC_000001.9:g.159402967C>G | NCBI36 |
| NG_012877.1:g.5163C>G | |
| NG_012877.2:g.5163C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367999.9:c.-128C>G MANE Select | ENSP00000356978.4:n.-128C>G | |
| ENST00000651150.1:c.-128C>G | ENSP00000498615.1:n.-128C>G | |
| ENST00000652182.1:c.-128C>G | ENSP00000498884.1:n.-128C>G | |
| ENST00000652473.1:c.-128C>G | ENSP00000498477.1:n.-128C>G | |
| ENST00000652729.1:c.-8-287C>G | ENSP00000498609.1:n.-8-287C>G | |
| ENST00000352210.9:c.-67C>G | ENSP00000343943.5:n.-67C>G | |
| ENST00000367999.8:c.-128C>G | ENSP00000356978.4:n.-128C>G | |
| ENST00000468968.6:n.72C>G | ||
| ENST00000470607.5:n.115C>G | ||
| ENST00000479246.5:n.115C>G | ||
| ENST00000495483.5:n.74C>G | ||
| ENST00000497522.5:n.124C>G | ||
| ENST00000535223.5:c.-128C>G | ENSP00000443769.1:n.-128C>G | |
| ENST00000539753.5:c.-128C>G | ENSP00000439613.1:n.-128C>G | |
| ENST00000544598.5:c.-128C>G | ENSP00000444216.1:n.-128C>G | |
| NM_000309.3:c.-67C>G | NP_000300.1:n.-67C>G | |
| NM_001122764.1:c.-128C>G | NP_001116236.1:n.-128C>G | |
| XM_005245291.3:c.-128C>G | XP_005245348.2:n.-128C>G | |
| XM_005245295.3:c.-439C>G | XP_005245352.2:n.-439C>G | |
| XM_006711402.2:c.-67C>G | XP_006711465.2:n.-67C>G | |
| XM_006711403.2:c.-67C>G | XP_006711466.2:n.-67C>G | |
| XM_006711404.2:c.-8-287C>G | XP_006711467.1:n.-8-287C>G | |
| XM_006711406.2:c.-435-287C>G | XP_006711469.2:n.-435-287C>G | |
| XM_011509663.1:c.107-287C>G | XP_011507965.1:n.107-287C>G | |
| XM_011509664.1:c.107-287C>G | XP_011507966.1:n.107-287C>G | |
| XM_011509665.1:c.107-287C>G | XP_011507967.1:n.107-287C>G | |
| XM_011509666.1:c.107-287C>G | XP_011507968.1:n.107-287C>G | |
| XM_011509667.1:c.-128C>G | XP_011507969.1:n.-128C>G | |
| XM_011509669.1:c.-8-287C>G | XP_011507971.1:n.-8-287C>G | |
| XM_011509670.1:c.107-287C>G | XP_011507972.1:n.107-287C>G | |
| XM_011509671.1:c.107-287C>G | XP_011507973.1:n.107-287C>G | |
| XM_011509672.1:c.107-287C>G | XP_011507974.1:n.107-287C>G | |
| XM_011509673.1:c.107-287C>G | XP_011507975.1:n.107-287C>G | |
| XM_011509674.1:c.107-287C>G | XP_011507976.1:n.107-287C>G | |
| XM_011509675.1:c.-128C>G | XP_011507977.1:n.-128C>G | |
| XM_011509676.1:c.-691C>G | XP_011507978.1:n.-691C>G | |
| XM_011509677.1:c.-630C>G | XP_011507979.1:n.-630C>G | |
| XM_011509678.1:c.-587C>G | XP_011507980.1:n.-587C>G | |
| XM_011509681.1:c.-471C>G | XP_011507983.1:n.-471C>G | |
| XM_011509682.1:c.-685C>G | XP_011507984.1:n.-685C>G | |
| XR_921850.1:n.116-287C>G | ||
| NM_000309.4:c.-67C>G | NP_000300.1:n.-67C>G | |
| NM_001122764.3:c.-128C>G MANE Select | NP_001116236.1:n.-128C>G | |
| NM_001350128.1:c.-128C>G | NP_001337057.1:n.-128C>G | |
| NM_001350129.1:c.-555C>G | NP_001337058.1:n.-555C>G | |
| NM_001350130.1:c.-646C>G | NP_001337059.1:n.-646C>G | |
| NM_001350131.1:c.-471C>G | NP_001337060.1:n.-471C>G | |
| XM_005245291.4:c.-128C>G | XP_005245348.2:n.-128C>G | |
| XM_006711404.4:c.107-287C>G | XP_006711467.2:n.107-287C>G | |
| XM_011509663.2:c.107-287C>G | XP_011507965.1:n.107-287C>G | |
| XM_011509665.2:c.107-287C>G | XP_011507967.1:n.107-287C>G | |
| XM_011509666.2:c.107-287C>G | XP_011507968.1:n.107-287C>G | |
| XM_011509667.2:c.-128C>G | XP_011507969.1:n.-128C>G | |
| XM_011509670.2:c.107-287C>G | XP_011507972.1:n.107-287C>G | |
| XM_011509672.3:c.107-287C>G | XP_011507974.1:n.107-287C>G | |
| XM_011509673.2:c.107-287C>G | XP_011507975.1:n.107-287C>G | |
| XM_011509674.2:c.107-287C>G | XP_011507976.1:n.107-287C>G | |
| XM_017001559.1:c.107-287C>G | XP_016857048.1:n.107-287C>G | |
| XM_017001560.2:c.-128C>G | XP_016857049.1:n.-128C>G | |
| XM_017001562.1:c.-555C>G | XP_016857051.1:n.-555C>G | |
| XM_017001563.2:c.-646C>G | XP_016857052.1:n.-646C>G | |
| XM_017001566.2:c.-587C>G | XP_016857055.1:n.-587C>G | |
| XM_017001567.1:c.-439C>G | XP_016857056.1:n.-439C>G | |
| XM_017001570.1:c.-436C>G | XP_016857059.1:n.-436C>G | |
| XM_017001571.1:c.107-287C>G | XP_016857060.1:n.107-287C>G | |
| XM_024447864.1:c.107-287C>G | XP_024303632.1:n.107-287C>G | |
| XM_024447865.1:c.-494C>G | XP_024303633.1:n.-494C>G | |
| XM_024447866.1:c.-526C>G | XP_024303634.1:n.-526C>G | |
| XM_024447867.1:c.-691C>G | XP_024303635.1:n.-691C>G | |
| XM_024447874.1:c.-378C>G | XP_024303642.1:n.-378C>G | |
| XM_024447877.1:c.-437C>G | XP_024303645.1:n.-437C>G | |
| XR_921850.2:n.330-287C>G | ||
| NM_000309.5:c.-67C>G | NP_000300.1:n.-67C>G | |
| NM_001350128.2:c.-128C>G | NP_001337057.1:n.-128C>G | |
| NM_001350129.2:c.-555C>G | NP_001337058.1:n.-555C>G | |
| NM_001350130.2:c.-646C>G | NP_001337059.1:n.-646C>G | |
| NM_001350131.2:c.-471C>G | NP_001337060.1:n.-471C>G | |
| NM_001365399.1:c.-128C>G | NP_001352328.1:n.-128C>G | |
| NM_001365400.1:c.-378C>G | NP_001352329.1:n.-378C>G | |
| NM_001365401.1:c.-437C>G | NP_001352330.1:n.-437C>G |