Linked Data
dbSNP Id:
rs200143780
ExAC:
3:183858275 A / G
gnomAD v2:
3-183858275-A-G
gnomAD v4:
3-184140487-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184140487A>G , CM000665.2:g.184140487A>G | GRCh38 |
| NC_000003.11:g.183858275A>G , CM000665.1:g.183858275A>G | GRCh37 |
| NC_000003.10:g.185340969A>G | NCBI36 |
| NG_015826.1:g.10466A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.936A>G | ||
| ENST00000468748.7:n.1156A>G | ||
| ENST00000484154.2:n.1387-1438A>G | ||
| ENST00000491008.6:n.1661A>G | ||
| ENST00000492226.2:n.1170A>G | ||
| ENST00000492773.6:c.667A>G | ||
| ENST00000647636.1:c.913A>G | ENSP00000497505.1:p.Met305Val | |
| ENST00000647909.1:c.937A>G | ENSP00000498164.1:p.Met313Val | |
| ENST00000648145.1:c.681A>G | ||
| ENST00000648189.1:c.727A>G | ||
| ENST00000648256.1:c.885A>G | ENSP00000497356.1:n.885A>G | |
| ENST00000648314.1:c.*32A>G | ENSP00000496920.1:n.*32A>G | |
| ENST00000648599.1:c.*196A>G | ENSP00000497159.1:n.*196A>G | |
| ENST00000648630.1:c.907A>G | ENSP00000497887.1:p.Met303Val | |
| ENST00000648682.1:c.913A>G | ENSP00000498185.1:p.Met305Val | |
| ENST00000648882.1:c.*739A>G | ENSP00000497603.1:n.*739A>G | |
| ENST00000648890.1:c.913A>G | ENSP00000497503.1:p.Met305Val | |
| ENST00000648915.2:c.913A>G MANE Select | ENSP00000497160.1:p.Met305Val | |
| ENST00000649545.1:c.577+330A>G | ||
| ENST00000649688.1:c.*196A>G | ENSP00000497097.1:n.*196A>G | |
| ENST00000649814.1:n.962A>G | ||
| ENST00000650270.1:c.780A>G | ||
| ENST00000273783.7:c.913A>G | ENSP00000273783.3:p.Met305Val | |
| ENST00000432982.5:c.246-1750A>G | ||
| ENST00000444495.1:c.913A>G | ENSP00000409142.1:p.Met305Val | |
| ENST00000468748.5:n.626A>G | ||
| ENST00000479833.1:n.229A>G | ||
| ENST00000481054.5:n.1007A>G | ||
| ENST00000491144.5:n.1417A>G | ||
| ENST00000493740.1:n.143A>G | ||
| NM_003907.2:c.913A>G | NP_003898.2:p.Met305Val | |
| XM_011513265.1:c.163A>G | XP_011511567.1:p.Met55Val | |
| XM_011513266.1:c.76A>G | XP_011511568.1:p.Met26Val | |
| XR_924208.1:n.1864A>G | ||
| NM_003907.3:c.913A>G MANE Select | NP_003898.2:p.Met305Val | |
| XM_011513266.3:c.76A>G | XP_011511568.1:p.Met26Val | |
| XR_001740352.2:n.1276A>G | ||
| XR_001740353.2:n.1276A>G | ||
| XR_924208.2:n.1276A>G |