Linked Data
dbSNP Id:
rs559654644
ExAC:
3:183855954 A / T
gnomAD v2:
3-183855954-A-T
gnomAD v3:
3-184138166-A-T
gnomAD v4:
3-184138166-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138166A>T , CM000665.2:g.184138166A>T | GRCh38 |
| NC_000003.11:g.183855954A>T , CM000665.1:g.183855954A>T | GRCh37 |
| NC_000003.10:g.185338648A>T | NCBI36 |
| NG_015826.1:g.8145A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.708A>T | ||
| ENST00000468748.7:n.668A>T | ||
| ENST00000484154.2:n.1306A>T | ||
| ENST00000491008.6:n.1433A>T | ||
| ENST00000492226.2:n.682A>T | ||
| ENST00000492773.6:c.439A>T | ||
| ENST00000647636.1:c.685A>T | ENSP00000497505.1:p.Ser229Cys | |
| ENST00000647909.1:c.709A>T | ENSP00000498164.1:p.Ser237Cys | |
| ENST00000648145.1:c.453A>T | ||
| ENST00000648189.1:c.435A>T | ||
| ENST00000648256.1:c.634A>T | ENSP00000497356.1:p.Ser212Cys | |
| ENST00000648314.1:c.685A>T | ENSP00000496920.1:p.Ser229Cys | |
| ENST00000648599.1:c.685A>T | ENSP00000497159.1:p.Ser229Cys | |
| ENST00000648630.1:c.679A>T | ENSP00000497887.1:p.Ser227Cys | |
| ENST00000648682.1:c.685A>T | ENSP00000498185.1:p.Ser229Cys | |
| ENST00000648882.1:c.*511A>T | ENSP00000497603.1:n.*511A>T | |
| ENST00000648890.1:c.685A>T | ENSP00000497503.1:p.Ser229Cys | |
| ENST00000648915.2:c.685A>T MANE Select | ENSP00000497160.1:p.Ser229Cys | |
| ENST00000649545.1:c.419A>T | ||
| ENST00000649688.1:c.685A>T | ENSP00000497097.1:p.Ser229Cys | |
| ENST00000649814.1:n.734A>T | ||
| ENST00000650270.1:c.552A>T | ||
| ENST00000273783.7:c.685A>T | ENSP00000273783.3:p.Ser229Cys | |
| ENST00000432982.5:c.245+1491A>T | ||
| ENST00000444495.1:c.685A>T | ENSP00000409142.1:p.Ser229Cys | |
| ENST00000468748.5:n.138A>T | ||
| ENST00000479833.1:n.1A>T | ||
| ENST00000481054.5:n.686A>T | ||
| ENST00000491008.5:n.649A>T | ||
| ENST00000491144.5:n.1125A>T | ||
| NM_003907.2:c.685A>T | NP_003898.2:p.Ser229Cys | |
| XR_924208.1:n.1636A>T | ||
| NM_003907.3:c.685A>T MANE Select | NP_003898.2:p.Ser229Cys | |
| XM_011513266.3:c.-217A>T | XP_011511568.1:n.-217A>T | |
| XR_001740352.2:n.1048A>T | ||
| XR_001740353.2:n.1048A>T | ||
| XR_924208.2:n.1048A>T |