Linked Data
ClinVar Variation Id:
194647
dbSNP Id:
rs751956751
ExAC:
7:77789357 A / G
gnomAD v2:
7-77789357-A-G
gnomAD v3:
7-78160040-A-G
gnomAD v4:
7-78160040-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.78160040A>G , CM000669.2:g.78160040A>G | GRCh38 |
| NC_000007.13:g.77789357A>G , CM000669.1:g.77789357A>G | GRCh37 |
| NC_000007.12:g.77627293A>G | NCBI36 |
| NG_011487.1:g.1298534T>C | |
| NG_011487.2:g.1298535T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354212.9:c.2830T>C MANE Select | ENSP00000346151.4:p.Ser944Pro | |
| ENST00000636178.1:c.1900T>C | ENSP00000489709.1:p.Ser634Pro | |
| ENST00000637282.1:c.1609T>C | ENSP00000490637.1:p.Ser537Pro | |
| ENST00000637441.1:c.2788T>C | ENSP00000489633.1:p.Ser930Pro | |
| ENST00000637486.1:c.*932T>C | ENSP00000490080.1:n.*932T>C | |
| ENST00000354212.8:c.2830T>C | ENSP00000346151.4:p.Ser944Pro | |
| ENST00000419488.5:c.2788T>C | ENSP00000405766.1:p.Ser930Pro | |
| ENST00000519748.5:c.1609T>C | ENSP00000486774.1:p.Ser537Pro | |
| ENST00000522342.3:c.484T>C | ENSP00000486379.1:p.Ser162Pro | |
| ENST00000522391.3:c.2830T>C | ENSP00000428389.1:p.Ser944Pro | |
| ENST00000524268.1:c.292T>C | ENSP00000487001.1:p.Ser98Pro | |
| ENST00000535697.5:c.2374T>C | ENSP00000441603.3:p.Ser792Pro | |
| ENST00000626691.2:c.2341T>C | ENSP00000486131.1:p.Ser781Pro | |
| ENST00000628980.2:c.2416T>C | ENSP00000487526.1:p.Ser806Pro | |
| ENST00000629359.2:c.2299T>C | ENSP00000487448.1:p.Ser767Pro | |
| NM_001301128.1:c.2788T>C | NP_001288057.1:p.Ser930Pro | |
| NM_012301.3:c.2830T>C | NP_036433.2:p.Ser944Pro | |
| XM_011516718.1:c.2830T>C | XP_011515020.1:p.Ser944Pro | |
| XM_011516719.1:c.2470T>C | XP_011515021.1:p.Ser824Pro | |
| XM_011516720.1:c.2470T>C | XP_011515022.1:p.Ser824Pro | |
| XM_011516721.1:c.2299T>C | XP_011515023.1:p.Ser767Pro | |
| XM_011516722.1:c.2290T>C | XP_011515024.1:p.Ser764Pro | |
| XM_011516723.1:c.2830T>C | XP_011515025.1:p.Ser944Pro | |
| XM_011516724.1:c.2830T>C | XP_011515026.1:p.Ser944Pro | |
| XM_011516725.1:c.2830T>C | XP_011515027.1:p.Ser944Pro | |
| XM_011516726.1:c.1786T>C | XP_011515028.1:p.Ser596Pro | |
| XM_011516727.1:c.1786T>C | XP_011515029.1:p.Ser596Pro | |
| XM_011516728.1:c.1657T>C | XP_011515030.1:p.Ser553Pro | |
| XM_011516729.1:c.1609T>C | XP_011515031.1:p.Ser537Pro | |
| XM_011516718.2:c.2830T>C | XP_011515020.1:p.Ser944Pro | |
| XM_011516719.3:c.2470T>C | XP_011515021.1:p.Ser824Pro | |
| XM_011516720.3:c.2470T>C | XP_011515022.1:p.Ser824Pro | |
| XM_011516726.3:c.1786T>C | XP_011515028.1:p.Ser596Pro | |
| XM_017012840.2:c.2959T>C | XP_016868329.1:p.Ser987Pro | |
| XM_017012841.2:c.2956T>C | XP_016868330.1:p.Ser986Pro | |
| XM_017012842.2:c.2953T>C | XP_016868331.1:p.Ser985Pro | |
| XM_017012843.2:c.2917T>C | XP_016868332.1:p.Ser973Pro | |
| XM_017012844.2:c.2959T>C | XP_016868333.1:p.Ser987Pro | |
| XM_017012845.2:c.2824T>C | XP_016868334.1:p.Ser942Pro | |
| XM_017012846.2:c.2788T>C | XP_016868335.1:p.Ser930Pro | |
| XM_017012847.2:c.2470T>C | XP_016868336.1:p.Ser824Pro | |
| XM_017012848.2:c.2341T>C | XP_016868337.1:p.Ser781Pro | |
| XM_017012849.2:c.2335T>C | XP_016868338.1:p.Ser779Pro | |
| XM_017012850.2:c.2959T>C | XP_016868339.1:p.Ser987Pro | |
| XM_017012851.2:c.2959T>C | XP_016868340.1:p.Ser987Pro | |
| XM_017012852.2:c.2959T>C | XP_016868341.1:p.Ser987Pro | |
| XM_024447009.1:c.2470T>C | XP_024302777.1:p.Ser824Pro | |
| NM_012301.4:c.2830T>C MANE Select | NP_036433.2:p.Ser944Pro | |
| NM_001301128.2:c.2788T>C | NP_001288057.1:p.Ser930Pro |