Linked Data
dbSNP Id:
rs765570329
ExAC:
6:157520037 A / G
gnomAD v2:
6-157520037-A-G
gnomAD v4:
6-157198903-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157198903A>G , CM000668.2:g.157198903A>G | GRCh38 |
| NC_000006.11:g.157520037A>G , CM000668.1:g.157520037A>G | GRCh37 |
| NC_000006.10:g.157561729A>G | NCBI36 |
| NG_032093.1:g.425974A>G | |
| NG_032093.2:g.425974A>G | |
| NG_066624.1:g.427878A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4316A>G | ENSP00000055163.8:p.Gln1439Arg | |
| ENST00000414678.8:c.4385A>G | ENSP00000412835.3:p.Gln1462Arg | |
| ENST00000637015.2:c.4604A>G | ENSP00000489729.2:p.Gln1535Arg | |
| ENST00000346085.10:c.4355A>G | ENSP00000344546.5:p.Gln1452Arg | |
| ENST00000350026.10:c.4067A>G | ENSP00000055163.7:p.Gln1356Arg | |
| ENST00000414678.7:c.2633A>G | ENSP00000412835.2:p.Gln878Arg | |
| ENST00000635849.1:c.1796A>G | ENSP00000490948.1:p.Gln599Arg | |
| ENST00000635957.1:c.1427A>G | ENSP00000490385.1:p.Gln476Arg | |
| ENST00000636227.1:n.2938A>G | ||
| ENST00000636254.1:n.395A>G | ||
| ENST00000636930.2:c.4475A>G MANE Select | ENSP00000490491.2:p.Gln1492Arg | |
| ENST00000636940.1:n.2472A>G | ||
| ENST00000637015.1:c.1843A>G | ||
| ENST00000637568.1:c.1757A>G | ||
| ENST00000637741.1:n.1141A>G | ||
| ENST00000637810.1:c.1817A>G | ENSP00000489636.1:p.Gln606Arg | |
| ENST00000637904.1:c.1976A>G | ENSP00000490550.1:p.Gln659Arg | |
| ENST00000647938.1:c.4106A>G | ENSP00000498155.1:p.Gln1369Arg | |
| ENST00000346085.9:c.4106A>G | ENSP00000344546.4:p.Gln1369Arg | |
| ENST00000350026.9:c.4067A>G | ENSP00000055163.7:p.Gln1356Arg | |
| ENST00000414678.6:c.2633A>G | ENSP00000412835.2:p.Gln878Arg | |
| NM_017519.2:c.4067A>G | NP_059989.2:p.Gln1356Arg | |
| NM_020732.3:c.4106A>G | NP_065783.3:p.Gln1369Arg | |
| XM_005267069.3:c.4226A>G | XP_005267126.2:p.Gln1409Arg | |
| XM_011535984.1:c.3305A>G | XP_011534286.1:p.Gln1102Arg | |
| XM_011535985.1:c.3125A>G | XP_011534287.1:p.Gln1042Arg | |
| XM_011535986.1:c.2885A>G | XP_011534288.1:p.Gln962Arg | |
| XM_011535987.1:c.2504A>G | XP_011534289.1:p.Gln835Arg | |
| XM_011535988.1:c.1367A>G | XP_011534290.1:p.Gln456Arg | |
| NM_001346813.1:c.4226A>G | NP_001333742.1:p.Gln1409Arg | |
| NM_001363725.1:c.1976A>G | NP_001350654.1:p.Gln659Arg | |
| XM_011535984.2:c.4436A>G | XP_011534286.2:p.Gln1479Arg | |
| XM_011535988.3:c.1367A>G | XP_011534290.1:p.Gln456Arg | |
| XM_017011103.2:c.4337A>G | XP_016866592.1:p.Gln1446Arg | |
| XM_017011104.1:c.4307A>G | XP_016866593.1:p.Gln1436Arg | |
| XM_017011105.2:c.4277A>G | XP_016866594.1:p.Gln1426Arg | |
| XM_017011106.2:c.4148A>G | XP_016866595.1:p.Gln1383Arg | |
| XM_017011107.2:c.4127A>G | XP_016866596.1:p.Gln1376Arg | |
| XR_002956289.1:n.4427-1802A>G | ||
| NM_001363725.2:c.1976A>G | NP_001350654.1:p.Gln659Arg | |
| NM_001371656.1:c.4355A>G | NP_001358585.1:p.Gln1452Arg | |
| NM_001374820.1:c.4355A>G | NP_001361749.1:p.Gln1452Arg | |
| NM_001374828.1:c.4475A>G MANE Select | NP_001361757.1:p.Gln1492Arg | |
| NM_017519.3:c.4316A>G | NP_059989.3:p.Gln1439Arg |