Linked Data
dbSNP Id:
rs1332061566
gnomAD v2:
6-157510788-C-A
gnomAD v3:
6-157189654-C-A
gnomAD v4:
6-157189654-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189654C>A , CM000668.2:g.157189654C>A | GRCh38 |
| NC_000006.11:g.157510788C>A , CM000668.1:g.157510788C>A | GRCh37 |
| NC_000006.10:g.157552480C>A | NCBI36 |
| NG_032093.1:g.416725C>A | |
| NG_032093.2:g.416725C>A | |
| NG_066624.1:g.418629C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3773C>A | ENSP00000055163.8:p.Ser1258Tyr | |
| ENST00000414678.8:c.3842C>A | ENSP00000412835.3:p.Ser1281Tyr | |
| ENST00000637015.2:c.4061C>A | ENSP00000489729.2:p.Ser1354Tyr | |
| ENST00000346085.10:c.3812C>A | ENSP00000344546.5:p.Ser1271Tyr | |
| ENST00000350026.10:c.3524C>A | ENSP00000055163.7:p.Ser1175Tyr | |
| ENST00000414678.7:c.2090C>A | ENSP00000412835.2:p.Ser697Tyr | |
| ENST00000635849.1:c.1253C>A | ENSP00000490948.1:p.Ser418Tyr | |
| ENST00000635957.1:c.887C>A | ENSP00000490385.1:p.Ser296Tyr | |
| ENST00000636930.2:c.3932C>A MANE Select | ENSP00000490491.2:p.Ser1311Tyr | |
| ENST00000636940.1:n.1929C>A | ||
| ENST00000637015.1:c.1300C>A | ||
| ENST00000637568.1:c.1214C>A | ||
| ENST00000637741.1:n.598C>A | ||
| ENST00000637810.1:c.1274C>A | ENSP00000489636.1:p.Ser425Tyr | |
| ENST00000637904.1:c.1433C>A | ENSP00000490550.1:p.Ser478Tyr | |
| ENST00000647938.1:c.3563C>A | ENSP00000498155.1:p.Ser1188Tyr | |
| ENST00000346085.9:c.3563C>A | ENSP00000344546.4:p.Ser1188Tyr | |
| ENST00000350026.9:c.3524C>A | ENSP00000055163.7:p.Ser1175Tyr | |
| ENST00000414678.6:c.2090C>A | ENSP00000412835.2:p.Ser697Tyr | |
| NM_017519.2:c.3524C>A | NP_059989.2:p.Ser1175Tyr | |
| NM_020732.3:c.3563C>A | NP_065783.3:p.Ser1188Tyr | |
| XM_005267069.3:c.3683C>A | XP_005267126.2:p.Ser1228Tyr | |
| XM_011535984.1:c.2762C>A | XP_011534286.1:p.Ser921Tyr | |
| XM_011535985.1:c.2582C>A | XP_011534287.1:p.Ser861Tyr | |
| XM_011535986.1:c.2342C>A | XP_011534288.1:p.Ser781Tyr | |
| XM_011535987.1:c.1961C>A | XP_011534289.1:p.Ser654Tyr | |
| XM_011535988.1:c.824C>A | XP_011534290.1:p.Ser275Tyr | |
| NM_001346813.1:c.3683C>A | NP_001333742.1:p.Ser1228Tyr | |
| NM_001363725.1:c.1433C>A | NP_001350654.1:p.Ser478Tyr | |
| XM_011535984.2:c.3893C>A | XP_011534286.2:p.Ser1298Tyr | |
| XM_011535988.3:c.824C>A | XP_011534290.1:p.Ser275Tyr | |
| XM_017011103.2:c.3794C>A | XP_016866592.1:p.Ser1265Tyr | |
| XM_017011104.1:c.3764C>A | XP_016866593.1:p.Ser1255Tyr | |
| XM_017011105.2:c.3734C>A | XP_016866594.1:p.Ser1245Tyr | |
| XM_017011106.2:c.3605C>A | XP_016866595.1:p.Ser1202Tyr | |
| XM_017011107.2:c.3584C>A | XP_016866596.1:p.Ser1195Tyr | |
| XR_002956289.1:n.3976C>A | ||
| NM_001363725.2:c.1433C>A | NP_001350654.1:p.Ser478Tyr | |
| NM_001371656.1:c.3812C>A | NP_001358585.1:p.Ser1271Tyr | |
| NM_001374820.1:c.3812C>A | NP_001361749.1:p.Ser1271Tyr | |
| NM_001374828.1:c.3932C>A MANE Select | NP_001361757.1:p.Ser1311Tyr | |
| NM_017519.3:c.3773C>A | NP_059989.3:p.Ser1258Tyr |