Linked Data
ClinVar Variation Id:
180476
dbSNP Id:
rs143501870
ExAC:
1:227071413 A / G
gnomAD v2:
1-227071413-A-G
gnomAD v3:
1-226883712-A-G
gnomAD v4:
1-226883712-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226883712A>G , CM000663.2:g.226883712A>G | GRCh38 |
| NC_000001.10:g.227071413A>G , CM000663.1:g.227071413A>G | GRCh37 |
| NC_000001.9:g.225138036A>G | NCBI36 |
| NG_007381.1:g.18141A>G | |
| NG_007381.2:g.18529A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366779.6:c.149A>G | ENSP00000355741.2:p.Gln50Arg | |
| ENST00000366782.6:c.149A>G | ENSP00000355746.2:p.Gln50Arg | |
| ENST00000366783.8:c.149A>G MANE Select | ENSP00000355747.3:p.Gln50Arg | |
| ENST00000524196.6:c.149A>G | ENSP00000429036.2:p.Gln50Arg | |
| ENST00000626989.3:c.149A>G | ENSP00000486498.2:p.Gln50Arg | |
| ENST00000676467.1:c.144A>G | ENSP00000504294.1:p.Pro48= | |
| ENST00000676747.1:c.149A>G | ENSP00000503244.1:p.Gln50Arg | |
| ENST00000676840.1:c.149A>G | ENSP00000504318.1:p.Gln50Arg | |
| ENST00000676884.1:c.149A>G | ENSP00000503200.1:p.Gln50Arg | |
| ENST00000676888.1:c.149A>G | ENSP00000504483.1:p.Gln50Arg | |
| ENST00000676907.1:c.149A>G | ENSP00000504410.1:p.Gln50Arg | |
| ENST00000676945.1:c.149A>G | ENSP00000504433.1:p.Gln50Arg | |
| ENST00000677065.1:n.710A>G | ||
| ENST00000677414.1:c.149A>G | ENSP00000503116.1:p.Gln50Arg | |
| ENST00000677529.1:n.587A>G | ||
| ENST00000677596.1:c.144A>G | ENSP00000503618.1:p.Pro48= | |
| ENST00000677599.1:c.149A>G | ENSP00000503673.1:p.Gln50Arg | |
| ENST00000677748.1:n.587A>G | ||
| ENST00000677880.1:c.-153-1749A>G | ENSP00000503121.1:n.-153-1749A>G | |
| ENST00000678021.1:c.141+1664A>G | ENSP00000504674.1:n.141+1664A>G | |
| ENST00000678233.1:c.149A>G | ENSP00000504728.1:p.Gln50Arg | |
| ENST00000678320.1:c.149A>G | ENSP00000503680.1:p.Gln50Arg | |
| ENST00000678655.1:c.149A>G | ENSP00000504230.1:p.Gln50Arg | |
| ENST00000678706.1:c.149A>G | ENSP00000503659.1:p.Gln50Arg | |
| ENST00000678776.1:c.144A>G | ENSP00000504624.1:p.Pro48= | |
| ENST00000678784.1:c.149A>G | ENSP00000504652.1:p.Gln50Arg | |
| ENST00000678820.1:c.149A>G | ENSP00000504138.1:p.Gln50Arg | |
| ENST00000678835.1:c.149A>G | ENSP00000504343.1:p.Gln50Arg | |
| ENST00000679088.1:c.149A>G | ENSP00000504727.1:p.Gln50Arg | |
| ENST00000679098.1:c.149A>G | ENSP00000504303.1:p.Gln50Arg | |
| ENST00000366782.5:c.248A>G | ENSP00000355746.1:p.Gln83Arg | |
| ENST00000366783.7:c.149A>G | ENSP00000355747.3:p.Gln50Arg | |
| ENST00000422240.6:c.149A>G | ENSP00000403737.2:p.Gln50Arg | |
| ENST00000460775.5:c.-21-4379A>G | ENSP00000427912.1:n.-21-4379A>G | |
| ENST00000495488.5:c.149A>G | ENSP00000429682.1:p.Gln50Arg | |
| ENST00000626989.2:c.248A>G | ENSP00000486498.1:p.Gln83Arg | |
| NM_000447.2:c.149A>G | NP_000438.2:p.Gln50Arg | |
| NM_012486.2:c.149A>G | NP_036618.2:p.Gln50Arg | |
| XM_005273199.2:c.149A>G | XP_005273256.1:p.Gln50Arg | |
| XM_011544236.1:c.-76-1826A>G | XP_011542538.1:n.-76-1826A>G | |
| XR_949149.1:n.576A>G | ||
| XR_949150.1:n.576A>G | ||
| XM_005273199.4:c.149A>G | XP_005273256.1:p.Gln50Arg | |
| XM_017001835.1:c.149A>G | XP_016857324.1:p.Gln50Arg | |
| XM_017001836.1:c.149A>G | XP_016857325.1:p.Gln50Arg | |
| XR_001737316.2:n.554A>G | ||
| XR_001737317.2:n.554A>G | ||
| XR_001737318.2:n.554A>G | ||
| XR_001737319.1:n.897A>G | ||
| XR_001737320.1:n.897A>G | ||
| XR_001737321.1:n.389A>G | ||
| XR_949149.2:n.554A>G | ||
| XR_949150.3:n.554A>G | ||
| NM_000447.3:c.149A>G MANE Select | NP_000438.2:p.Gln50Arg | |
| NM_012486.3:c.149A>G | NP_036618.2:p.Gln50Arg |