Linked Data
ClinVar Variation Id:
1259794
dbSNP Id:
rs13321
ExAC:
9:117792583 C / G
gnomAD v2:
9-117792583-C-G
gnomAD v3:
9-115030304-C-G
gnomAD v4:
9-115030304-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115030304C>G , CM000671.2:g.115030304C>G | GRCh38 |
| NC_000009.11:g.117792583C>G , CM000671.1:g.117792583C>G | GRCh37 |
| NC_000009.10:g.116832404C>G | NCBI36 |
| NG_029637.1:g.92954G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537320.6:c.4111G>C | ENSP00000443478.1:p.Glu1371Gln | |
| ENST00000542877.6:c.4933G>C | ENSP00000442242.1:p.Glu1645Gln | |
| ENST00000705190.1:c.2965G>C | ENSP00000516083.1:p.Glu989Gln | |
| ENST00000705191.1:c.1621G>C | ENSP00000516084.1:p.Glu541Gln | |
| ENST00000705192.1:c.4980G>C | ||
| ENST00000350763.9:c.6022G>C MANE Select | ENSP00000265131.4:p.Glu2008Gln | |
| ENST00000341037.8:c.5476G>C | ENSP00000339553.4:p.Glu1826Gln | |
| ENST00000350763.8:c.6022G>C | ENSP00000265131.4:p.Glu2008Gln | |
| ENST00000423613.6:c.5203G>C | ENSP00000411406.2:p.Glu1735Gln | |
| ENST00000460345.1:n.604G>C | ||
| ENST00000535648.5:c.4933G>C | ENSP00000438152.2:p.Glu1645Gln | |
| ENST00000537320.5:c.4111G>C | ENSP00000443478.1:p.Glu1371Gln | |
| ENST00000542877.5:c.4933G>C | ENSP00000442242.1:p.Glu1645Gln | |
| ENST00000544972.1:c.1709G>C | ||
| NM_002160.3:c.6022G>C | NP_002151.2:p.Glu2008Gln | |
| XM_005251972.2:c.5749G>C | XP_005252029.1:p.Glu1917Gln | |
| XM_005251973.2:c.4930G>C | XP_005252030.1:p.Glu1644Gln | |
| XM_005251974.2:c.4384G>C | XP_005252031.1:p.Glu1462Gln | |
| XM_005251975.2:c.4111G>C | XP_005252032.1:p.Glu1371Gln | |
| XM_006717096.2:c.6298G>C | XP_006717159.1:p.Glu2100Gln | |
| XM_006717097.2:c.5749G>C | XP_006717160.1:p.Glu1917Gln | |
| XM_006717098.2:c.5476G>C | XP_006717161.1:p.Glu1826Gln | |
| XM_006717100.2:c.5203G>C | XP_006717163.1:p.Glu1735Gln | |
| XM_006717101.2:c.4384G>C | XP_006717164.1:p.Glu1462Gln | |
| XM_011518622.1:c.6025G>C | XP_011516924.1:p.Glu2009Gln | |
| XM_011518623.1:c.6025G>C | XP_011516925.1:p.Glu2009Gln | |
| XM_011518624.1:c.5479G>C | XP_011516926.1:p.Glu1827Gln | |
| XM_011518625.1:c.5476G>C | XP_011516927.1:p.Glu1826Gln | |
| XM_011518626.1:c.5206G>C | XP_011516928.1:p.Glu1736Gln | |
| XM_011518627.1:c.4933G>C | XP_011516929.1:p.Glu1645Gln | |
| XM_011518628.1:c.4657G>C | XP_011516930.1:p.Glu1553Gln | |
| XM_011518629.1:c.4657G>C | XP_011516931.1:p.Glu1553Gln | |
| XM_005251972.4:c.5749G>C | XP_005252029.1:p.Glu1917Gln | |
| XM_005251973.4:c.4930G>C | XP_005252030.1:p.Glu1644Gln | |
| XM_005251974.4:c.4384G>C | XP_005252031.1:p.Glu1462Gln | |
| XM_005251975.4:c.4111G>C | XP_005252032.1:p.Glu1371Gln | |
| XM_006717096.4:c.6298G>C | XP_006717159.1:p.Glu2100Gln | |
| XM_006717097.4:c.5749G>C | XP_006717160.1:p.Glu1917Gln | |
| XM_006717098.4:c.5476G>C | XP_006717161.1:p.Glu1826Gln | |
| XM_006717101.4:c.4384G>C | XP_006717164.1:p.Glu1462Gln | |
| XM_011518625.3:c.5476G>C | XP_011516927.1:p.Glu1826Gln | |
| XM_011518626.3:c.5206G>C | XP_011516928.1:p.Glu1736Gln | |
| XM_011518628.3:c.4657G>C | XP_011516930.1:p.Glu1553Gln | |
| XM_011518629.3:c.4657G>C | XP_011516931.1:p.Glu1553Gln | |
| XM_017014678.2:c.6571G>C | XP_016870167.1:p.Glu2191Gln | |
| XM_017014679.2:c.6298G>C | XP_016870168.1:p.Glu2100Gln | |
| XM_017014680.2:c.6295G>C | XP_016870169.1:p.Glu2099Gln | |
| XM_017014681.2:c.5479G>C | XP_016870170.1:p.Glu1827Gln | |
| XM_024447530.1:c.6571G>C | XP_024303298.1:p.Glu2191Gln | |
| NM_002160.4:c.6022G>C MANE Select | NP_002151.2:p.Glu2008Gln |