Linked Data
ClinVar Variation Id:
5949
dbSNP Id:
rs113994053
ExAC:
3:183855724 C / T
gnomAD v2:
3-183855724-C-T
gnomAD v3:
3-184137936-C-T
gnomAD v4:
3-184137936-C-T
PubMed:
PMID:15136690
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137936C>T , CM000665.2:g.184137936C>T | GRCh38 |
| NC_000003.11:g.183855724C>T , CM000665.1:g.183855724C>T | GRCh37 |
| NC_000003.10:g.185338418C>T | NCBI36 |
| NG_015826.1:g.7915C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465218.3:n.568C>T | ||
| ENST00000468748.7:n.528C>T | ||
| ENST00000484154.2:n.1166C>T | ||
| ENST00000491008.6:n.1293C>T | ||
| ENST00000492226.2:n.542C>T | ||
| ENST00000492773.6:c.277C>T | ||
| ENST00000647636.1:c.545C>T | ENSP00000497505.1:p.Thr182Met | |
| ENST00000647909.1:c.569C>T | ENSP00000498164.1:p.Thr190Met | |
| ENST00000648145.1:c.313C>T | ||
| ENST00000648189.1:c.295C>T | ||
| ENST00000648256.1:c.494C>T | ENSP00000497356.1:p.Thr165Met | |
| ENST00000648314.1:c.545C>T | ENSP00000496920.1:p.Thr182Met | |
| ENST00000648599.1:c.545C>T | ENSP00000497159.1:p.Thr182Met | |
| ENST00000648630.1:c.539C>T | ENSP00000497887.1:p.Thr180Met | |
| ENST00000648682.1:c.545C>T | ENSP00000498185.1:p.Thr182Met | |
| ENST00000648882.1:c.*371C>T | ENSP00000497603.1:n.*371C>T | |
| ENST00000648890.1:c.545C>T | ENSP00000497503.1:p.Thr182Met | |
| ENST00000648915.2:c.545C>T MANE Select | ENSP00000497160.1:p.Thr182Met | |
| ENST00000649545.1:c.279C>T | ||
| ENST00000649688.1:c.545C>T | ENSP00000497097.1:p.Thr182Met | |
| ENST00000649814.1:n.594C>T | ||
| ENST00000650244.1:c.690C>T | ENSP00000497227.1:n.690C>T | |
| ENST00000650270.1:c.412C>T | ||
| ENST00000273783.7:c.545C>T | ENSP00000273783.3:p.Thr182Met | |
| ENST00000432982.5:c.245+1261C>T | ||
| ENST00000444495.1:c.545C>T | ENSP00000409142.1:p.Thr182Met | |
| ENST00000481054.5:n.546C>T | ||
| ENST00000491008.5:n.509C>T | ||
| ENST00000491144.5:n.985C>T | ||
| ENST00000498831.1:n.500C>T | ||
| NM_003907.2:c.545C>T | NP_003898.2:p.Thr182Met | |
| XR_924208.1:n.1496C>T | ||
| NM_003907.3:c.545C>T MANE Select | NP_003898.2:p.Thr182Met | |
| XM_011513266.3:c.-357C>T | XP_011511568.1:n.-357C>T | |
| XR_001740352.2:n.908C>T | ||
| XR_001740353.2:n.908C>T | ||
| XR_924208.2:n.908C>T |