Linked Data
ClinVar Variation Id:
5942
dbSNP Id:
rs28939717
ExAC:
3:183854475 A / G
gnomAD v2:
3-183854475-A-G
gnomAD v3:
3-184136687-A-G
gnomAD v4:
3-184136687-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184136687A>G , CM000665.2:g.184136687A>G | GRCh38 |
| NC_000003.11:g.183854475A>G , CM000665.1:g.183854475A>G | GRCh37 |
| NC_000003.10:g.185337169A>G | NCBI36 |
| NG_015826.1:g.6666A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000432569.2:c.271A>G | ENSP00000414775.1:p.Thr91Ala | |
| ENST00000465218.3:n.294A>G | ||
| ENST00000468748.7:n.254A>G | ||
| ENST00000471832.2:c.*265A>G | ENSP00000497786.1:n.*265A>G | |
| ENST00000484154.2:n.9A>G | ||
| ENST00000491008.6:n.136A>G | ||
| ENST00000492226.2:n.268A>G | ||
| ENST00000492773.6:c.3A>G | ||
| ENST00000647636.1:c.271A>G | ENSP00000497505.1:p.Thr91Ala | |
| ENST00000647909.1:c.271A>G | ENSP00000498164.1:p.Thr91Ala | |
| ENST00000648145.1:c.39A>G | ||
| ENST00000648189.1:c.21A>G | ||
| ENST00000648256.1:c.220A>G | ENSP00000497356.1:p.Thr74Ala | |
| ENST00000648314.1:c.271A>G | ENSP00000496920.1:p.Thr91Ala | |
| ENST00000648599.1:c.271A>G | ENSP00000497159.1:p.Thr91Ala | |
| ENST00000648630.1:c.265A>G | ENSP00000497887.1:p.Thr89Ala | |
| ENST00000648682.1:c.271A>G | ENSP00000498185.1:p.Thr91Ala | |
| ENST00000648882.1:c.*97A>G | ENSP00000497603.1:n.*97A>G | |
| ENST00000648890.1:c.271A>G | ENSP00000497503.1:p.Thr91Ala | |
| ENST00000648915.2:c.271A>G MANE Select | ENSP00000497160.1:p.Thr91Ala | |
| ENST00000649545.1:c.5A>G | ||
| ENST00000649688.1:c.271A>G | ENSP00000497097.1:p.Thr91Ala | |
| ENST00000649814.1:n.320A>G | ||
| ENST00000650244.1:c.416A>G | ENSP00000497227.1:n.416A>G | |
| ENST00000650270.1:c.138A>G | ||
| ENST00000273783.7:c.271A>G | ENSP00000273783.3:p.Thr91Ala | |
| ENST00000432569.1:c.271A>G | ENSP00000414775.1:p.Thr91Ala | |
| ENST00000432982.5:c.245+12A>G | ||
| ENST00000444495.1:c.271A>G | ENSP00000409142.1:p.Thr91Ala | |
| ENST00000471832.1:n.202A>G | ||
| ENST00000481054.5:n.272A>G | ||
| ENST00000491144.5:n.619A>G | ||
| ENST00000498831.1:n.127A>G | ||
| NM_003907.2:c.271A>G | NP_003898.2:p.Thr91Ala | |
| XR_924208.1:n.1222A>G | ||
| NM_003907.3:c.271A>G MANE Select | NP_003898.2:p.Thr91Ala | |
| XM_011513266.3:c.-631A>G | XP_011511568.1:n.-631A>G | |
| XR_001740352.2:n.634A>G | ||
| XR_001740353.2:n.634A>G | ||
| XR_924208.2:n.634A>G |