Linked Data
ClinVar Variation Id:
724494
dbSNP Id:
rs61734387
ExAC:
9:117808721 C / G
gnomAD v2:
9-117808721-C-G
gnomAD v3:
9-115046442-C-G
gnomAD v4:
9-115046442-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115046442C>G , CM000671.2:g.115046442C>G | GRCh38 |
| NC_000009.11:g.117808721C>G , CM000671.1:g.117808721C>G | GRCh37 |
| NC_000009.10:g.116848542C>G | NCBI36 |
| NG_029637.1:g.76816G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476680.2:c.318-4101G>C | ||
| ENST00000537320.6:c.3215-4101G>C | ENSP00000443478.1:n.3215-4101G>C | |
| ENST00000542877.6:c.4004G>C | ENSP00000442242.1:p.Arg1335Pro | |
| ENST00000705190.1:c.2036G>C | ENSP00000516083.1:p.Arg679Pro | |
| ENST00000705191.1:c.692G>C | ENSP00000516084.1:p.Arg231Pro | |
| ENST00000705192.1:c.4051G>C | ||
| ENST00000350763.9:c.5093G>C MANE Select | ENSP00000265131.4:p.Arg1698Pro | |
| ENST00000341037.8:c.4547G>C | ENSP00000339553.4:p.Arg1516Pro | |
| ENST00000350763.8:c.5093G>C | ENSP00000265131.4:p.Arg1698Pro | |
| ENST00000423613.6:c.4307-4101G>C | ENSP00000411406.2:n.4307-4101G>C | |
| ENST00000476680.1:n.253-4101G>C | ||
| ENST00000498724.5:n.40-4101G>C | ||
| ENST00000535648.5:c.4004G>C | ENSP00000438152.2:p.Arg1335Pro | |
| ENST00000537320.5:c.3215-4101G>C | ENSP00000443478.1:n.3215-4101G>C | |
| ENST00000542877.5:c.4004G>C | ENSP00000442242.1:p.Arg1335Pro | |
| ENST00000544972.1:c.780G>C | ||
| NM_002160.3:c.5093G>C | NP_002151.2:p.Arg1698Pro | |
| XM_005251972.2:c.4820G>C | XP_005252029.1:p.Arg1607Pro | |
| XM_005251973.2:c.4034-4101G>C | XP_005252030.1:n.4034-4101G>C | |
| XM_005251974.2:c.3455G>C | XP_005252031.1:p.Arg1152Pro | |
| XM_005251975.2:c.3215-4101G>C | XP_005252032.1:n.3215-4101G>C | |
| XM_006717096.2:c.5369G>C | XP_006717159.1:p.Arg1790Pro | |
| XM_006717097.2:c.4820G>C | XP_006717160.1:p.Arg1607Pro | |
| XM_006717098.2:c.4547G>C | XP_006717161.1:p.Arg1516Pro | |
| XM_006717100.2:c.4307-4101G>C | XP_006717163.1:n.4307-4101G>C | |
| XM_006717101.2:c.3488-4101G>C | XP_006717164.1:n.3488-4101G>C | |
| XM_011518622.1:c.5096G>C | XP_011516924.1:p.Arg1699Pro | |
| XM_011518623.1:c.5096G>C | XP_011516925.1:p.Arg1699Pro | |
| XM_011518624.1:c.4550G>C | XP_011516926.1:p.Arg1517Pro | |
| XM_011518625.1:c.4580-4101G>C | XP_011516927.1:n.4580-4101G>C | |
| XM_011518626.1:c.4277G>C | XP_011516928.1:p.Arg1426Pro | |
| XM_011518627.1:c.4004G>C | XP_011516929.1:p.Arg1335Pro | |
| XM_011518628.1:c.3761-4101G>C | XP_011516930.1:n.3761-4101G>C | |
| XM_011518629.1:c.3728G>C | XP_011516931.1:p.Arg1243Pro | |
| XM_005251972.4:c.4820G>C | XP_005252029.1:p.Arg1607Pro | |
| XM_005251973.4:c.4034-4101G>C | XP_005252030.1:n.4034-4101G>C | |
| XM_005251974.4:c.3455G>C | XP_005252031.1:p.Arg1152Pro | |
| XM_005251975.4:c.3215-4101G>C | XP_005252032.1:n.3215-4101G>C | |
| XM_006717096.4:c.5369G>C | XP_006717159.1:p.Arg1790Pro | |
| XM_006717097.4:c.4820G>C | XP_006717160.1:p.Arg1607Pro | |
| XM_006717098.4:c.4547G>C | XP_006717161.1:p.Arg1516Pro | |
| XM_006717101.4:c.3488-4101G>C | XP_006717164.1:n.3488-4101G>C | |
| XM_011518625.3:c.4580-4101G>C | XP_011516927.1:n.4580-4101G>C | |
| XM_011518626.3:c.4277G>C | XP_011516928.1:p.Arg1426Pro | |
| XM_011518628.3:c.3761-4101G>C | XP_011516930.1:n.3761-4101G>C | |
| XM_011518629.3:c.3728G>C | XP_011516931.1:p.Arg1243Pro | |
| XM_017014678.2:c.5642G>C | XP_016870167.1:p.Arg1881Pro | |
| XM_017014679.2:c.5369G>C | XP_016870168.1:p.Arg1790Pro | |
| XM_017014680.2:c.5366G>C | XP_016870169.1:p.Arg1789Pro | |
| XM_017014681.2:c.4550G>C | XP_016870170.1:p.Arg1517Pro | |
| XM_024447530.1:c.5642G>C | XP_024303298.1:p.Arg1881Pro | |
| NM_002160.4:c.5093G>C MANE Select | NP_002151.2:p.Arg1698Pro |