Linked Data
ClinVar Variation Id:
375360
ClinVar RCV Id:
RCV000416466
dbSNP Id:
rs1057519464
PubMed:
PMID:23852624
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72347711T>G , CM000677.2:g.72347711T>G | GRCh38 |
| NC_000015.9:g.72640052T>G , CM000677.1:g.72640052T>G | GRCh37 |
| NC_000015.8:g.70427106T>G | NCBI36 |
| NG_009017.1:g.33469A>C | |
| NG_009017.2:g.33469A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1073+337A>C | ENSP00000457521.2:n.1073+337A>C | |
| ENST00000682061.1:c.*783A>C | ENSP00000508316.1:n.*783A>C | |
| ENST00000682177.1:c.1164A>C | ENSP00000507409.1:n.1164A>C | |
| ENST00000682461.1:c.1227A>C | ENSP00000507308.1:n.1227A>C | |
| ENST00000682653.1:n.1441A>C | ||
| ENST00000682657.1:c.*483+337A>C | ENSP00000507753.1:n.*483+337A>C | |
| ENST00000682721.1:c.*924A>C | ENSP00000507535.1:n.*924A>C | |
| ENST00000682843.1:c.*971+337A>C | ENSP00000508173.1:n.*971+337A>C | |
| ENST00000683003.1:c.*483+337A>C | ENSP00000507576.1:n.*483+337A>C | |
| ENST00000683133.1:c.1305A>C | ENSP00000508108.1:n.1305A>C | |
| ENST00000683228.1:n.1152A>C | ||
| ENST00000683243.1:c.*483+337A>C | ENSP00000507042.1:n.*483+337A>C | |
| ENST00000683463.1:c.1073+337A>C | ENSP00000507986.1:n.1073+337A>C | |
| ENST00000683548.1:n.1104+337A>C | ||
| ENST00000683579.1:c.*1019A>C | ENSP00000506867.1:n.*1019A>C | |
| ENST00000683587.1:n.1152A>C | ||
| ENST00000683681.1:c.1121A>C | ENSP00000508110.1:p.Gln374Pro | |
| ENST00000683735.1:c.*1019A>C | ENSP00000508336.1:n.*1019A>C | |
| ENST00000683742.1:n.952A>C | ||
| ENST00000683853.1:c.1073+337A>C | ENSP00000506834.1:n.1073+337A>C | |
| ENST00000683860.1:c.1121A>C | ENSP00000507179.1:p.Gln374Pro | |
| ENST00000683884.1:c.1121A>C | ENSP00000507004.1:p.Gln374Pro | |
| ENST00000684041.1:c.1121A>C | ENSP00000508382.1:p.Gln374Pro | |
| ENST00000684125.1:c.1073+337A>C | ENSP00000507320.1:n.1073+337A>C | |
| ENST00000684203.1:n.2911+337A>C | ||
| ENST00000684231.1:c.*531A>C | ENSP00000507748.1:n.*531A>C | |
| ENST00000684263.1:c.*61A>C | ENSP00000508369.1:n.*61A>C | |
| ENST00000684305.1:c.1569A>C | ENSP00000506819.1:n.1569A>C | |
| ENST00000684415.1:c.*13+320A>C | ENSP00000507227.1:n.*13+320A>C | |
| ENST00000684520.1:c.1121A>C | ENSP00000506826.1:p.Gln374Pro | |
| ENST00000684602.1:c.*787A>C | ENSP00000507996.1:n.*787A>C | |
| ENST00000684667.1:c.1452A>C | ENSP00000507003.1:n.1452A>C | |
| ENST00000268097.10:c.1121A>C MANE Select | ENSP00000268097.6:p.Gln374Pro | |
| ENST00000268097.9:c.1121A>C | ENSP00000268097.5:p.Gln374Pro | |
| ENST00000379915.4:c.413-1386A>C | ENSP00000478716.1:n.413-1386A>C | |
| ENST00000563762.5:c.825+337A>C | ENSP00000456346.1:n.825+337A>C | |
| ENST00000566304.5:c.1154A>C | ENSP00000455114.1:p.Gln385Pro | |
| ENST00000566672.5:c.*531A>C | ENSP00000457037.1:n.*531A>C | |
| ENST00000567027.5:c.945+337A>C | ||
| ENST00000567159.5:c.1121A>C | ENSP00000456489.1:p.Gln374Pro | |
| ENST00000567411.5:c.*642A>C | ENSP00000455545.1:n.*642A>C | |
| ENST00000568777.5:n.6525A>C | ||
| ENST00000569410.5:c.1073+337A>C | ENSP00000457125.1:n.1073+337A>C | |
| NM_000520.4:c.1121A>C | NP_000511.2:p.Gln374Pro | |
| NM_000520.5:c.1121A>C | NP_000511.2:p.Gln374Pro | |
| NM_001318825.1:c.1154A>C | NP_001305754.1:p.Gln385Pro | |
| NR_134869.1:n.1574+337A>C | ||
| NM_000520.6:c.1121A>C MANE Select | NP_000511.2:p.Gln374Pro | |
| NM_001318825.2:c.1154A>C | NP_001305754.1:p.Gln385Pro | |
| NR_134869.2:n.1115+337A>C | ||
| NR_134869.3:n.1115+337A>C |