Linked Data
dbSNP Id:
rs1713657918
gnomAD v3:
3-184142040-A-G
gnomAD v4:
3-184142040-A-G
MyVariant Identifiers:
chr3:g.183859828A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184142040A>G , CM000665.2:g.184142040A>G | GRCh38 |
| NC_000003.11:g.183859828A>G , CM000665.1:g.183859828A>G | GRCh37 |
| NC_000003.10:g.185342522A>G | NCBI36 |
| NG_015826.1:g.12019A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.1295A>G | ||
| ENST00000468748.7:n.1515A>G | ||
| ENST00000484154.2:n.1502A>G | ||
| ENST00000491008.6:n.2020A>G | ||
| ENST00000492226.2:n.1539A>G | ||
| ENST00000492773.6:c.1026A>G | ||
| ENST00000647636.1:c.*121A>G | ENSP00000497505.1:n.*121A>G | |
| ENST00000647909.1:c.1296A>G | ENSP00000498164.1:p.Thr432= | |
| ENST00000648145.1:c.1044A>G | ||
| ENST00000648189.1:c.1090A>G | ||
| ENST00000648256.1:c.1244A>G | ENSP00000497356.1:n.1244A>G | |
| ENST00000648314.1:c.*391A>G | ENSP00000496920.1:n.*391A>G | |
| ENST00000648599.1:c.*555A>G | ENSP00000497159.1:n.*555A>G | |
| ENST00000648630.1:c.1151A>G | ENSP00000497887.1:n.1151A>G | |
| ENST00000648682.1:c.*112A>G | ENSP00000498185.1:n.*112A>G | |
| ENST00000648882.1:c.*1098A>G | ENSP00000497603.1:n.*1098A>G | |
| ENST00000648890.1:c.1272A>G | ENSP00000497503.1:p.Thr424= | |
| ENST00000648915.2:c.1272A>G MANE Select | ENSP00000497160.1:p.Thr424= | |
| ENST00000649545.1:c.693A>G | ||
| ENST00000649688.1:c.*565A>G | ENSP00000497097.1:n.*565A>G | |
| ENST00000649814.1:n.1321A>G | ||
| ENST00000650270.1:c.1139A>G | ||
| ENST00000273783.7:c.1272A>G | ENSP00000273783.3:p.Thr424= | |
| ENST00000432982.5:c.246-197A>G | ||
| ENST00000444495.1:c.1272A>G | ENSP00000409142.1:p.Thr424= | |
| ENST00000479833.1:n.473A>G | ||
| ENST00000481054.5:n.1366A>G | ||
| ENST00000491144.5:n.1776A>G | ||
| ENST00000492773.5:n.155A>G | ||
| NM_003907.2:c.1272A>G | NP_003898.2:p.Thr424= | |
| XM_011513265.1:c.522A>G | XP_011511567.1:p.Thr174= | |
| XM_011513266.1:c.435A>G | XP_011511568.1:p.Thr145= | |
| XR_924208.1:n.2223A>G | ||
| NM_003907.3:c.1272A>G MANE Select | NP_003898.2:p.Thr424= | |
| XM_011513266.3:c.435A>G | XP_011511568.1:p.Thr145= | |
| XR_001740352.2:n.1635A>G | ||
| XR_001740353.2:n.1635A>G | ||
| XR_924208.2:n.1635A>G |