Linked Data
ClinVar Variation Id:
2279651
ClinVar RCV Id:
RCV004131543
dbSNP Id:
rs1046190165
gnomAD v2:
9-117797547-C-T
gnomAD v3:
9-115035268-C-T
gnomAD v4:
9-115035268-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115035268C>T , CM000671.2:g.115035268C>T | GRCh38 |
| NC_000009.11:g.117797547C>T , CM000671.1:g.117797547C>T | GRCh37 |
| NC_000009.10:g.116837368C>T | NCBI36 |
| NG_029637.1:g.87990G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000537320.6:c.3812G>A | ENSP00000443478.1:p.Arg1271Gln | |
| ENST00000542877.6:c.4634G>A | ENSP00000442242.1:p.Arg1545Gln | |
| ENST00000705190.1:c.2666G>A | ENSP00000516083.1:p.Arg889Gln | |
| ENST00000705191.1:c.1322G>A | ENSP00000516084.1:p.Arg441Gln | |
| ENST00000705192.1:c.4681G>A | ||
| ENST00000350763.9:c.5723G>A MANE Select | ENSP00000265131.4:p.Arg1908Gln | |
| ENST00000341037.8:c.5177G>A | ENSP00000339553.4:p.Arg1726Gln | |
| ENST00000350763.8:c.5723G>A | ENSP00000265131.4:p.Arg1908Gln | |
| ENST00000423613.6:c.4904G>A | ENSP00000411406.2:p.Arg1635Gln | |
| ENST00000460345.1:n.305G>A | ||
| ENST00000535648.5:c.4634G>A | ENSP00000438152.2:p.Arg1545Gln | |
| ENST00000537320.5:c.3812G>A | ENSP00000443478.1:p.Arg1271Gln | |
| ENST00000542877.5:c.4634G>A | ENSP00000442242.1:p.Arg1545Gln | |
| ENST00000544972.1:c.1410G>A | ||
| NM_002160.3:c.5723G>A | NP_002151.2:p.Arg1908Gln | |
| XM_005251972.2:c.5450G>A | XP_005252029.1:p.Arg1817Gln | |
| XM_005251973.2:c.4631G>A | XP_005252030.1:p.Arg1544Gln | |
| XM_005251974.2:c.4085G>A | XP_005252031.1:p.Arg1362Gln | |
| XM_005251975.2:c.3812G>A | XP_005252032.1:p.Arg1271Gln | |
| XM_006717096.2:c.5999G>A | XP_006717159.1:p.Arg2000Gln | |
| XM_006717097.2:c.5450G>A | XP_006717160.1:p.Arg1817Gln | |
| XM_006717098.2:c.5177G>A | XP_006717161.1:p.Arg1726Gln | |
| XM_006717100.2:c.4904G>A | XP_006717163.1:p.Arg1635Gln | |
| XM_006717101.2:c.4085G>A | XP_006717164.1:p.Arg1362Gln | |
| XM_011518622.1:c.5726G>A | XP_011516924.1:p.Arg1909Gln | |
| XM_011518623.1:c.5726G>A | XP_011516925.1:p.Arg1909Gln | |
| XM_011518624.1:c.5180G>A | XP_011516926.1:p.Arg1727Gln | |
| XM_011518625.1:c.5177G>A | XP_011516927.1:p.Arg1726Gln | |
| XM_011518626.1:c.4907G>A | XP_011516928.1:p.Arg1636Gln | |
| XM_011518627.1:c.4634G>A | XP_011516929.1:p.Arg1545Gln | |
| XM_011518628.1:c.4358G>A | XP_011516930.1:p.Arg1453Gln | |
| XM_011518629.1:c.4358G>A | XP_011516931.1:p.Arg1453Gln | |
| XM_005251972.4:c.5450G>A | XP_005252029.1:p.Arg1817Gln | |
| XM_005251973.4:c.4631G>A | XP_005252030.1:p.Arg1544Gln | |
| XM_005251974.4:c.4085G>A | XP_005252031.1:p.Arg1362Gln | |
| XM_005251975.4:c.3812G>A | XP_005252032.1:p.Arg1271Gln | |
| XM_006717096.4:c.5999G>A | XP_006717159.1:p.Arg2000Gln | |
| XM_006717097.4:c.5450G>A | XP_006717160.1:p.Arg1817Gln | |
| XM_006717098.4:c.5177G>A | XP_006717161.1:p.Arg1726Gln | |
| XM_006717101.4:c.4085G>A | XP_006717164.1:p.Arg1362Gln | |
| XM_011518625.3:c.5177G>A | XP_011516927.1:p.Arg1726Gln | |
| XM_011518626.3:c.4907G>A | XP_011516928.1:p.Arg1636Gln | |
| XM_011518628.3:c.4358G>A | XP_011516930.1:p.Arg1453Gln | |
| XM_011518629.3:c.4358G>A | XP_011516931.1:p.Arg1453Gln | |
| XM_017014678.2:c.6272G>A | XP_016870167.1:p.Arg2091Gln | |
| XM_017014679.2:c.5999G>A | XP_016870168.1:p.Arg2000Gln | |
| XM_017014680.2:c.5996G>A | XP_016870169.1:p.Arg1999Gln | |
| XM_017014681.2:c.5180G>A | XP_016870170.1:p.Arg1727Gln | |
| XM_024447530.1:c.6272G>A | XP_024303298.1:p.Arg2091Gln | |
| NM_002160.4:c.5723G>A MANE Select | NP_002151.2:p.Arg1908Gln |