Linked Data
ClinVar Variation Id:
1402435
ClinVar RCV Id:
RCV001906437
dbSNP Id:
rs536707551
ExAC:
3:183855760 C / T
gnomAD v2:
3-183855760-C-T
gnomAD v3:
3-184137972-C-T
gnomAD v4:
3-184137972-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137972C>T , CM000665.2:g.184137972C>T | GRCh38 |
| NC_000003.11:g.183855760C>T , CM000665.1:g.183855760C>T | GRCh37 |
| NC_000003.10:g.185338454C>T | NCBI36 |
| NG_015826.1:g.7951C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.604C>T | ||
| ENST00000468748.7:n.564C>T | ||
| ENST00000484154.2:n.1202C>T | ||
| ENST00000491008.6:n.1329C>T | ||
| ENST00000492226.2:n.578C>T | ||
| ENST00000492773.6:c.313C>T | ||
| ENST00000647636.1:c.581C>T | ENSP00000497505.1:p.Thr194Ile | |
| ENST00000647909.1:c.605C>T | ENSP00000498164.1:p.Thr202Ile | |
| ENST00000648145.1:c.349C>T | ||
| ENST00000648189.1:c.331C>T | ||
| ENST00000648256.1:c.530C>T | ENSP00000497356.1:p.Thr177Ile | |
| ENST00000648314.1:c.581C>T | ENSP00000496920.1:p.Thr194Ile | |
| ENST00000648599.1:c.581C>T | ENSP00000497159.1:p.Thr194Ile | |
| ENST00000648630.1:c.575C>T | ENSP00000497887.1:p.Thr192Ile | |
| ENST00000648682.1:c.581C>T | ENSP00000498185.1:p.Thr194Ile | |
| ENST00000648882.1:c.*407C>T | ENSP00000497603.1:n.*407C>T | |
| ENST00000648890.1:c.581C>T | ENSP00000497503.1:p.Thr194Ile | |
| ENST00000648915.2:c.581C>T MANE Select | ENSP00000497160.1:p.Thr194Ile | |
| ENST00000649545.1:c.315C>T | ||
| ENST00000649688.1:c.581C>T | ENSP00000497097.1:p.Thr194Ile | |
| ENST00000649814.1:n.630C>T | ||
| ENST00000650270.1:c.448C>T | ||
| ENST00000273783.7:c.581C>T | ENSP00000273783.3:p.Thr194Ile | |
| ENST00000432982.5:c.245+1297C>T | ||
| ENST00000444495.1:c.581C>T | ENSP00000409142.1:p.Thr194Ile | |
| ENST00000468748.5:n.34C>T | ||
| ENST00000481054.5:n.582C>T | ||
| ENST00000491008.5:n.545C>T | ||
| ENST00000491144.5:n.1021C>T | ||
| ENST00000498831.1:n.536C>T | ||
| NM_003907.2:c.581C>T | NP_003898.2:p.Thr194Ile | |
| XR_924208.1:n.1532C>T | ||
| NM_003907.3:c.581C>T MANE Select | NP_003898.2:p.Thr194Ile | |
| XM_011513266.3:c.-321C>T | XP_011511568.1:n.-321C>T | |
| XR_001740352.2:n.944C>T | ||
| XR_001740353.2:n.944C>T | ||
| XR_924208.2:n.944C>T |