Linked Data
dbSNP Id:
rs778087071
ExAC:
3:183855524 C / G
gnomAD v2:
3-183855524-C-G
gnomAD v4:
3-184137736-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137736C>G , CM000665.2:g.184137736C>G | GRCh38 |
| NC_000003.11:g.183855524C>G , CM000665.1:g.183855524C>G | GRCh37 |
| NC_000003.10:g.185338218C>G | NCBI36 |
| NG_015826.1:g.7715C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.460C>G | ||
| ENST00000468748.7:n.420C>G | ||
| ENST00000484154.2:n.1058C>G | ||
| ENST00000491008.6:n.1185C>G | ||
| ENST00000492226.2:n.434C>G | ||
| ENST00000492773.6:c.169C>G | ||
| ENST00000647636.1:c.437C>G | ENSP00000497505.1:p.Ser146Cys | |
| ENST00000647909.1:c.437C>G | ENSP00000498164.1:p.Ser146Cys | |
| ENST00000648145.1:c.205C>G | ||
| ENST00000648189.1:c.187C>G | ||
| ENST00000648256.1:c.386C>G | ENSP00000497356.1:p.Ser129Cys | |
| ENST00000648314.1:c.437C>G | ENSP00000496920.1:p.Ser146Cys | |
| ENST00000648599.1:c.437C>G | ENSP00000497159.1:p.Ser146Cys | |
| ENST00000648630.1:c.431C>G | ENSP00000497887.1:p.Ser144Cys | |
| ENST00000648682.1:c.437C>G | ENSP00000498185.1:p.Ser146Cys | |
| ENST00000648882.1:c.*263C>G | ENSP00000497603.1:n.*263C>G | |
| ENST00000648890.1:c.437C>G | ENSP00000497503.1:p.Ser146Cys | |
| ENST00000648915.2:c.437C>G MANE Select | ENSP00000497160.1:p.Ser146Cys | |
| ENST00000649545.1:c.171C>G | ||
| ENST00000649688.1:c.437C>G | ENSP00000497097.1:p.Ser146Cys | |
| ENST00000649814.1:n.486C>G | ||
| ENST00000650244.1:c.582C>G | ENSP00000497227.1:n.582C>G | |
| ENST00000650270.1:c.304C>G | ||
| ENST00000273783.7:c.437C>G | ENSP00000273783.3:p.Ser146Cys | |
| ENST00000432982.5:c.245+1061C>G | ||
| ENST00000444495.1:c.437C>G | ENSP00000409142.1:p.Ser146Cys | |
| ENST00000481054.5:n.438C>G | ||
| ENST00000491008.5:n.401C>G | ||
| ENST00000491144.5:n.785C>G | ||
| ENST00000498831.1:n.392C>G | ||
| NM_003907.2:c.437C>G | NP_003898.2:p.Ser146Cys | |
| XR_924208.1:n.1388C>G | ||
| NM_003907.3:c.437C>G MANE Select | NP_003898.2:p.Ser146Cys | |
| XM_011513266.3:c.-465C>G | XP_011511568.1:n.-465C>G | |
| XR_001740352.2:n.800C>G | ||
| XR_001740353.2:n.800C>G | ||
| XR_924208.2:n.800C>G |