Linked Data
ClinVar Variation Id:
1182259
ClinVar RCV Id:
RCV001539848
dbSNP Id:
rs12347433
ExAC:
9:117797597 T / C
gnomAD v2:
9-117797597-T-C
gnomAD v3:
9-115035318-T-C
gnomAD v4:
9-115035318-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115035318T>C , CM000671.2:g.115035318T>C | GRCh38 |
| NC_000009.11:g.117797597T>C , CM000671.1:g.117797597T>C | GRCh37 |
| NC_000009.10:g.116837418T>C | NCBI36 |
| NG_029637.1:g.87940A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000537320.6:c.3762A>G | ENSP00000443478.1:p.Arg1254= | |
| ENST00000542877.6:c.4584A>G | ENSP00000442242.1:p.Arg1528= | |
| ENST00000705190.1:c.2616A>G | ENSP00000516083.1:p.Arg872= | |
| ENST00000705191.1:c.1272A>G | ENSP00000516084.1:p.Arg424= | |
| ENST00000705192.1:c.4631A>G | ||
| ENST00000350763.9:c.5673A>G MANE Select | ENSP00000265131.4:p.Arg1891= | |
| ENST00000341037.8:c.5127A>G | ENSP00000339553.4:p.Arg1709= | |
| ENST00000350763.8:c.5673A>G | ENSP00000265131.4:p.Arg1891= | |
| ENST00000423613.6:c.4854A>G | ENSP00000411406.2:p.Arg1618= | |
| ENST00000460345.1:n.255A>G | ||
| ENST00000535648.5:c.4584A>G | ENSP00000438152.2:p.Arg1528= | |
| ENST00000537320.5:c.3762A>G | ENSP00000443478.1:p.Arg1254= | |
| ENST00000542877.5:c.4584A>G | ENSP00000442242.1:p.Arg1528= | |
| ENST00000544972.1:c.1360A>G | ||
| NM_002160.3:c.5673A>G | NP_002151.2:p.Arg1891= | |
| XM_005251972.2:c.5400A>G | XP_005252029.1:p.Arg1800= | |
| XM_005251973.2:c.4581A>G | XP_005252030.1:p.Arg1527= | |
| XM_005251974.2:c.4035A>G | XP_005252031.1:p.Arg1345= | |
| XM_005251975.2:c.3762A>G | XP_005252032.1:p.Arg1254= | |
| XM_006717096.2:c.5949A>G | XP_006717159.1:p.Arg1983= | |
| XM_006717097.2:c.5400A>G | XP_006717160.1:p.Arg1800= | |
| XM_006717098.2:c.5127A>G | XP_006717161.1:p.Arg1709= | |
| XM_006717100.2:c.4854A>G | XP_006717163.1:p.Arg1618= | |
| XM_006717101.2:c.4035A>G | XP_006717164.1:p.Arg1345= | |
| XM_011518622.1:c.5676A>G | XP_011516924.1:p.Arg1892= | |
| XM_011518623.1:c.5676A>G | XP_011516925.1:p.Arg1892= | |
| XM_011518624.1:c.5130A>G | XP_011516926.1:p.Arg1710= | |
| XM_011518625.1:c.5127A>G | XP_011516927.1:p.Arg1709= | |
| XM_011518626.1:c.4857A>G | XP_011516928.1:p.Arg1619= | |
| XM_011518627.1:c.4584A>G | XP_011516929.1:p.Arg1528= | |
| XM_011518628.1:c.4308A>G | XP_011516930.1:p.Arg1436= | |
| XM_011518629.1:c.4308A>G | XP_011516931.1:p.Arg1436= | |
| XM_005251972.4:c.5400A>G | XP_005252029.1:p.Arg1800= | |
| XM_005251973.4:c.4581A>G | XP_005252030.1:p.Arg1527= | |
| XM_005251974.4:c.4035A>G | XP_005252031.1:p.Arg1345= | |
| XM_005251975.4:c.3762A>G | XP_005252032.1:p.Arg1254= | |
| XM_006717096.4:c.5949A>G | XP_006717159.1:p.Arg1983= | |
| XM_006717097.4:c.5400A>G | XP_006717160.1:p.Arg1800= | |
| XM_006717098.4:c.5127A>G | XP_006717161.1:p.Arg1709= | |
| XM_006717101.4:c.4035A>G | XP_006717164.1:p.Arg1345= | |
| XM_011518625.3:c.5127A>G | XP_011516927.1:p.Arg1709= | |
| XM_011518626.3:c.4857A>G | XP_011516928.1:p.Arg1619= | |
| XM_011518628.3:c.4308A>G | XP_011516930.1:p.Arg1436= | |
| XM_011518629.3:c.4308A>G | XP_011516931.1:p.Arg1436= | |
| XM_017014678.2:c.6222A>G | XP_016870167.1:p.Arg2074= | |
| XM_017014679.2:c.5949A>G | XP_016870168.1:p.Arg1983= | |
| XM_017014680.2:c.5946A>G | XP_016870169.1:p.Arg1982= | |
| XM_017014681.2:c.5130A>G | XP_016870170.1:p.Arg1710= | |
| XM_024447530.1:c.6222A>G | XP_024303298.1:p.Arg2074= | |
| NM_002160.4:c.5673A>G MANE Select | NP_002151.2:p.Arg1891= |