Linked Data
dbSNP Id:
rs147923183
ExAC:
3:183855568 A / G
gnomAD v2:
3-183855568-A-G
gnomAD v3:
3-184137780-A-G
gnomAD v4:
3-184137780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.184137780A>G , CM000665.2:g.184137780A>G | GRCh38 |
| NC_000003.11:g.183855568A>G , CM000665.1:g.183855568A>G | GRCh37 |
| NC_000003.10:g.185338262A>G | NCBI36 |
| NG_015826.1:g.7759A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465218.3:n.504A>G | ||
| ENST00000468748.7:n.464A>G | ||
| ENST00000484154.2:n.1102A>G | ||
| ENST00000491008.6:n.1229A>G | ||
| ENST00000492226.2:n.478A>G | ||
| ENST00000492773.6:c.213A>G | ||
| ENST00000647636.1:c.481A>G | ENSP00000497505.1:p.Ile161Val | |
| ENST00000647909.1:c.481A>G | ENSP00000498164.1:p.Ile161Val | |
| ENST00000648145.1:c.249A>G | ||
| ENST00000648189.1:c.231A>G | ||
| ENST00000648256.1:c.430A>G | ENSP00000497356.1:p.Ile144Val | |
| ENST00000648314.1:c.481A>G | ENSP00000496920.1:p.Ile161Val | |
| ENST00000648599.1:c.481A>G | ENSP00000497159.1:p.Ile161Val | |
| ENST00000648630.1:c.475A>G | ENSP00000497887.1:p.Ile159Val | |
| ENST00000648682.1:c.481A>G | ENSP00000498185.1:p.Ile161Val | |
| ENST00000648882.1:c.*307A>G | ENSP00000497603.1:n.*307A>G | |
| ENST00000648890.1:c.481A>G | ENSP00000497503.1:p.Ile161Val | |
| ENST00000648915.2:c.481A>G MANE Select | ENSP00000497160.1:p.Ile161Val | |
| ENST00000649545.1:c.215A>G | ||
| ENST00000649688.1:c.481A>G | ENSP00000497097.1:p.Ile161Val | |
| ENST00000649814.1:n.530A>G | ||
| ENST00000650244.1:c.626A>G | ENSP00000497227.1:n.626A>G | |
| ENST00000650270.1:c.348A>G | ||
| ENST00000273783.7:c.481A>G | ENSP00000273783.3:p.Ile161Val | |
| ENST00000432982.5:c.245+1105A>G | ||
| ENST00000444495.1:c.481A>G | ENSP00000409142.1:p.Ile161Val | |
| ENST00000481054.5:n.482A>G | ||
| ENST00000491008.5:n.445A>G | ||
| ENST00000491144.5:n.829A>G | ||
| ENST00000498831.1:n.436A>G | ||
| NM_003907.2:c.481A>G | NP_003898.2:p.Ile161Val | |
| XR_924208.1:n.1432A>G | ||
| NM_003907.3:c.481A>G MANE Select | NP_003898.2:p.Ile161Val | |
| XM_011513266.3:c.-421A>G | XP_011511568.1:n.-421A>G | |
| XR_001740352.2:n.844A>G | ||
| XR_001740353.2:n.844A>G | ||
| XR_924208.2:n.844A>G |