Linked Data
dbSNP Id:
rs748759595
ExAC:
6:157522137 A / T
gnomAD v2:
6-157522137-A-T
gnomAD v4:
6-157201003-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157201003A>T , CM000668.2:g.157201003A>T | GRCh38 |
| NC_000006.11:g.157522137A>T , CM000668.1:g.157522137A>T | GRCh37 |
| NC_000006.10:g.157563829A>T | NCBI36 |
| NG_032093.1:g.428074A>T | |
| NG_032093.2:g.428074A>T | |
| NG_066624.1:g.429978A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.4619A>T | ENSP00000055163.8:p.Asp1540Val | |
| ENST00000414678.8:c.4688A>T | ENSP00000412835.3:p.Asp1563Val | |
| ENST00000637015.2:c.4907A>T | ENSP00000489729.2:p.Asp1636Val | |
| ENST00000346085.10:c.4658A>T | ENSP00000344546.5:p.Asp1553Val | |
| ENST00000350026.10:c.4370A>T | ENSP00000055163.7:p.Asp1457Val | |
| ENST00000414678.7:c.2936A>T | ENSP00000412835.2:p.Asp979Val | |
| ENST00000635849.1:c.2099A>T | ENSP00000490948.1:p.Asp700Val | |
| ENST00000635957.1:c.1730A>T | ENSP00000490385.1:p.Asp577Val | |
| ENST00000636227.1:n.3241A>T | ||
| ENST00000636254.1:n.698A>T | ||
| ENST00000636930.2:c.4778A>T MANE Select | ENSP00000490491.2:p.Asp1593Val | |
| ENST00000636940.1:n.2775A>T | ||
| ENST00000637015.1:c.2146A>T | ||
| ENST00000637568.1:c.2060A>T | ||
| ENST00000637741.1:n.1444A>T | ||
| ENST00000637810.1:c.2120A>T | ENSP00000489636.1:p.Asp707Val | |
| ENST00000637904.1:c.2279A>T | ENSP00000490550.1:p.Asp760Val | |
| ENST00000647938.1:c.4409A>T | ENSP00000498155.1:p.Asp1470Val | |
| ENST00000346085.9:c.4409A>T | ENSP00000344546.4:p.Asp1470Val | |
| ENST00000350026.9:c.4370A>T | ENSP00000055163.7:p.Asp1457Val | |
| ENST00000414678.6:c.2936A>T | ENSP00000412835.2:p.Asp979Val | |
| NM_017519.2:c.4370A>T | NP_059989.2:p.Asp1457Val | |
| NM_020732.3:c.4409A>T | NP_065783.3:p.Asp1470Val | |
| XM_005267069.3:c.4529A>T | XP_005267126.2:p.Asp1510Val | |
| XM_011535984.1:c.3608A>T | XP_011534286.1:p.Asp1203Val | |
| XM_011535985.1:c.3428A>T | XP_011534287.1:p.Asp1143Val | |
| XM_011535986.1:c.3188A>T | XP_011534288.1:p.Asp1063Val | |
| XM_011535987.1:c.2807A>T | XP_011534289.1:p.Asp936Val | |
| XM_011535988.1:c.1670A>T | XP_011534290.1:p.Asp557Val | |
| NM_001346813.1:c.4529A>T | NP_001333742.1:p.Asp1510Val | |
| NM_001363725.1:c.2279A>T | NP_001350654.1:p.Asp760Val | |
| XM_011535984.2:c.4739A>T | XP_011534286.2:p.Asp1580Val | |
| XM_011535988.3:c.1670A>T | XP_011534290.1:p.Asp557Val | |
| XM_017011103.2:c.4640A>T | XP_016866592.1:p.Asp1547Val | |
| XM_017011104.1:c.4610A>T | XP_016866593.1:p.Asp1537Val | |
| XM_017011105.2:c.4580A>T | XP_016866594.1:p.Asp1527Val | |
| XM_017011106.2:c.4451A>T | XP_016866595.1:p.Asp1484Val | |
| XM_017011107.2:c.4430A>T | XP_016866596.1:p.Asp1477Val | |
| XR_002956289.1:n.4725A>T | ||
| NM_001363725.2:c.2279A>T | NP_001350654.1:p.Asp760Val | |
| NM_001371656.1:c.4658A>T | NP_001358585.1:p.Asp1553Val | |
| NM_001374820.1:c.4658A>T | NP_001361749.1:p.Asp1553Val | |
| NM_001374828.1:c.4778A>T MANE Select | NP_001361757.1:p.Asp1593Val | |
| NM_017519.3:c.4619A>T | NP_059989.3:p.Asp1540Val |