Linked Data
dbSNP Id:
rs200443670
ExAC:
3:183855796 A / G
gnomAD v2:
3-183855796-A-G
gnomAD v4:
3-184138008-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184138008A>G , CM000665.2:g.184138008A>G | GRCh38 |
| NC_000003.11:g.183855796A>G , CM000665.1:g.183855796A>G | GRCh37 |
| NC_000003.10:g.185338490A>G | NCBI36 |
| NG_015826.1:g.7987A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.640A>G | ||
| ENST00000468748.7:n.600A>G | ||
| ENST00000484154.2:n.1238A>G | ||
| ENST00000491008.6:n.1365A>G | ||
| ENST00000492226.2:n.614A>G | ||
| ENST00000492773.6:c.349A>G | ||
| ENST00000647636.1:c.617A>G | ENSP00000497505.1:p.Asp206Gly | |
| ENST00000647909.1:c.641A>G | ENSP00000498164.1:p.Asp214Gly | |
| ENST00000648145.1:c.385A>G | ||
| ENST00000648189.1:c.367A>G | ||
| ENST00000648256.1:c.566A>G | ENSP00000497356.1:p.Asp189Gly | |
| ENST00000648314.1:c.617A>G | ENSP00000496920.1:p.Asp206Gly | |
| ENST00000648599.1:c.617A>G | ENSP00000497159.1:p.Asp206Gly | |
| ENST00000648630.1:c.611A>G | ENSP00000497887.1:p.Asp204Gly | |
| ENST00000648682.1:c.617A>G | ENSP00000498185.1:p.Asp206Gly | |
| ENST00000648882.1:c.*443A>G | ENSP00000497603.1:n.*443A>G | |
| ENST00000648890.1:c.617A>G | ENSP00000497503.1:p.Asp206Gly | |
| ENST00000648915.2:c.617A>G MANE Select | ENSP00000497160.1:p.Asp206Gly | |
| ENST00000649545.1:c.351A>G | ||
| ENST00000649688.1:c.617A>G | ENSP00000497097.1:p.Asp206Gly | |
| ENST00000649814.1:n.666A>G | ||
| ENST00000650270.1:c.484A>G | ||
| ENST00000273783.7:c.617A>G | ENSP00000273783.3:p.Asp206Gly | |
| ENST00000432982.5:c.245+1333A>G | ||
| ENST00000444495.1:c.617A>G | ENSP00000409142.1:p.Asp206Gly | |
| ENST00000468748.5:n.70A>G | ||
| ENST00000481054.5:n.618A>G | ||
| ENST00000491008.5:n.581A>G | ||
| ENST00000491144.5:n.1057A>G | ||
| ENST00000498831.1:n.572A>G | ||
| NM_003907.2:c.617A>G | NP_003898.2:p.Asp206Gly | |
| XR_924208.1:n.1568A>G | ||
| NM_003907.3:c.617A>G MANE Select | NP_003898.2:p.Asp206Gly | |
| XM_011513266.3:c.-285A>G | XP_011511568.1:n.-285A>G | |
| XR_001740352.2:n.980A>G | ||
| XR_001740353.2:n.980A>G | ||
| XR_924208.2:n.980A>G |