Linked Data
ClinVar Variation Id:
2247729
ClinVar RCV Id:
RCV004104671
dbSNP Id:
rs1831198318
gnomAD v4:
9-115046427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.115046427C>T , CM000671.2:g.115046427C>T | GRCh38 |
| NC_000009.11:g.117808706C>T , CM000671.1:g.117808706C>T | GRCh37 |
| NC_000009.10:g.116848527C>T | NCBI36 |
| NG_029637.1:g.76831G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476680.2:c.318-4086G>A | ||
| ENST00000537320.6:c.3215-4086G>A | ENSP00000443478.1:n.3215-4086G>A | |
| ENST00000542877.6:c.4019G>A | ENSP00000442242.1:p.Ser1340Asn | |
| ENST00000705190.1:c.2051G>A | ENSP00000516083.1:p.Ser684Asn | |
| ENST00000705191.1:c.707G>A | ENSP00000516084.1:p.Ser236Asn | |
| ENST00000705192.1:c.4066G>A | ||
| ENST00000350763.9:c.5108G>A MANE Select | ENSP00000265131.4:p.Ser1703Asn | |
| ENST00000341037.8:c.4562G>A | ENSP00000339553.4:p.Ser1521Asn | |
| ENST00000350763.8:c.5108G>A | ENSP00000265131.4:p.Ser1703Asn | |
| ENST00000423613.6:c.4307-4086G>A | ENSP00000411406.2:n.4307-4086G>A | |
| ENST00000476680.1:n.253-4086G>A | ||
| ENST00000498724.5:n.40-4086G>A | ||
| ENST00000535648.5:c.4019G>A | ENSP00000438152.2:p.Ser1340Asn | |
| ENST00000537320.5:c.3215-4086G>A | ENSP00000443478.1:n.3215-4086G>A | |
| ENST00000542877.5:c.4019G>A | ENSP00000442242.1:p.Ser1340Asn | |
| ENST00000544972.1:c.795G>A | ||
| NM_002160.3:c.5108G>A | NP_002151.2:p.Ser1703Asn | |
| XM_005251972.2:c.4835G>A | XP_005252029.1:p.Ser1612Asn | |
| XM_005251973.2:c.4034-4086G>A | XP_005252030.1:n.4034-4086G>A | |
| XM_005251974.2:c.3470G>A | XP_005252031.1:p.Ser1157Asn | |
| XM_005251975.2:c.3215-4086G>A | XP_005252032.1:n.3215-4086G>A | |
| XM_006717096.2:c.5384G>A | XP_006717159.1:p.Ser1795Asn | |
| XM_006717097.2:c.4835G>A | XP_006717160.1:p.Ser1612Asn | |
| XM_006717098.2:c.4562G>A | XP_006717161.1:p.Ser1521Asn | |
| XM_006717100.2:c.4307-4086G>A | XP_006717163.1:n.4307-4086G>A | |
| XM_006717101.2:c.3488-4086G>A | XP_006717164.1:n.3488-4086G>A | |
| XM_011518622.1:c.5111G>A | XP_011516924.1:p.Ser1704Asn | |
| XM_011518623.1:c.5111G>A | XP_011516925.1:p.Ser1704Asn | |
| XM_011518624.1:c.4565G>A | XP_011516926.1:p.Ser1522Asn | |
| XM_011518625.1:c.4580-4086G>A | XP_011516927.1:n.4580-4086G>A | |
| XM_011518626.1:c.4292G>A | XP_011516928.1:p.Ser1431Asn | |
| XM_011518627.1:c.4019G>A | XP_011516929.1:p.Ser1340Asn | |
| XM_011518628.1:c.3761-4086G>A | XP_011516930.1:n.3761-4086G>A | |
| XM_011518629.1:c.3743G>A | XP_011516931.1:p.Ser1248Asn | |
| XM_005251972.4:c.4835G>A | XP_005252029.1:p.Ser1612Asn | |
| XM_005251973.4:c.4034-4086G>A | XP_005252030.1:n.4034-4086G>A | |
| XM_005251974.4:c.3470G>A | XP_005252031.1:p.Ser1157Asn | |
| XM_005251975.4:c.3215-4086G>A | XP_005252032.1:n.3215-4086G>A | |
| XM_006717096.4:c.5384G>A | XP_006717159.1:p.Ser1795Asn | |
| XM_006717097.4:c.4835G>A | XP_006717160.1:p.Ser1612Asn | |
| XM_006717098.4:c.4562G>A | XP_006717161.1:p.Ser1521Asn | |
| XM_006717101.4:c.3488-4086G>A | XP_006717164.1:n.3488-4086G>A | |
| XM_011518625.3:c.4580-4086G>A | XP_011516927.1:n.4580-4086G>A | |
| XM_011518626.3:c.4292G>A | XP_011516928.1:p.Ser1431Asn | |
| XM_011518628.3:c.3761-4086G>A | XP_011516930.1:n.3761-4086G>A | |
| XM_011518629.3:c.3743G>A | XP_011516931.1:p.Ser1248Asn | |
| XM_017014678.2:c.5657G>A | XP_016870167.1:p.Ser1886Asn | |
| XM_017014679.2:c.5384G>A | XP_016870168.1:p.Ser1795Asn | |
| XM_017014680.2:c.5381G>A | XP_016870169.1:p.Ser1794Asn | |
| XM_017014681.2:c.4565G>A | XP_016870170.1:p.Ser1522Asn | |
| XM_024447530.1:c.5657G>A | XP_024303298.1:p.Ser1886Asn | |
| NM_002160.4:c.5108G>A MANE Select | NP_002151.2:p.Ser1703Asn |