Linked Data
dbSNP Id:
rs552938708
ExAC:
6:157510817 A / G
gnomAD v2:
6-157510817-A-G
gnomAD v3:
6-157189683-A-G
gnomAD v4:
6-157189683-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.157189683A>G , CM000668.2:g.157189683A>G | GRCh38 |
| NC_000006.11:g.157510817A>G , CM000668.1:g.157510817A>G | GRCh37 |
| NC_000006.10:g.157552509A>G | NCBI36 |
| NG_032093.1:g.416754A>G | |
| NG_032093.2:g.416754A>G | |
| NG_066624.1:g.418658A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350026.11:c.3802A>G | ENSP00000055163.8:p.Thr1268Ala | |
| ENST00000414678.8:c.3871A>G | ENSP00000412835.3:p.Thr1291Ala | |
| ENST00000637015.2:c.4090A>G | ENSP00000489729.2:p.Thr1364Ala | |
| ENST00000346085.10:c.3841A>G | ENSP00000344546.5:p.Thr1281Ala | |
| ENST00000350026.10:c.3553A>G | ENSP00000055163.7:p.Thr1185Ala | |
| ENST00000414678.7:c.2119A>G | ENSP00000412835.2:p.Thr707Ala | |
| ENST00000635849.1:c.1282A>G | ENSP00000490948.1:p.Thr428Ala | |
| ENST00000635957.1:c.916A>G | ENSP00000490385.1:p.Thr306Ala | |
| ENST00000636930.2:c.3961A>G MANE Select | ENSP00000490491.2:p.Thr1321Ala | |
| ENST00000636940.1:n.1958A>G | ||
| ENST00000637015.1:c.1329A>G | ||
| ENST00000637568.1:c.1243A>G | ||
| ENST00000637741.1:n.627A>G | ||
| ENST00000637810.1:c.1303A>G | ENSP00000489636.1:p.Thr435Ala | |
| ENST00000637904.1:c.1462A>G | ENSP00000490550.1:p.Thr488Ala | |
| ENST00000647938.1:c.3592A>G | ENSP00000498155.1:p.Thr1198Ala | |
| ENST00000346085.9:c.3592A>G | ENSP00000344546.4:p.Thr1198Ala | |
| ENST00000350026.9:c.3553A>G | ENSP00000055163.7:p.Thr1185Ala | |
| ENST00000414678.6:c.2119A>G | ENSP00000412835.2:p.Thr707Ala | |
| NM_017519.2:c.3553A>G | NP_059989.2:p.Thr1185Ala | |
| NM_020732.3:c.3592A>G | NP_065783.3:p.Thr1198Ala | |
| XM_005267069.3:c.3712A>G | XP_005267126.2:p.Thr1238Ala | |
| XM_011535984.1:c.2791A>G | XP_011534286.1:p.Thr931Ala | |
| XM_011535985.1:c.2611A>G | XP_011534287.1:p.Thr871Ala | |
| XM_011535986.1:c.2371A>G | XP_011534288.1:p.Thr791Ala | |
| XM_011535987.1:c.1990A>G | XP_011534289.1:p.Thr664Ala | |
| XM_011535988.1:c.853A>G | XP_011534290.1:p.Thr285Ala | |
| NM_001346813.1:c.3712A>G | NP_001333742.1:p.Thr1238Ala | |
| NM_001363725.1:c.1462A>G | NP_001350654.1:p.Thr488Ala | |
| XM_011535984.2:c.3922A>G | XP_011534286.2:p.Thr1308Ala | |
| XM_011535988.3:c.853A>G | XP_011534290.1:p.Thr285Ala | |
| XM_017011103.2:c.3823A>G | XP_016866592.1:p.Thr1275Ala | |
| XM_017011104.1:c.3793A>G | XP_016866593.1:p.Thr1265Ala | |
| XM_017011105.2:c.3763A>G | XP_016866594.1:p.Thr1255Ala | |
| XM_017011106.2:c.3634A>G | XP_016866595.1:p.Thr1212Ala | |
| XM_017011107.2:c.3613A>G | XP_016866596.1:p.Thr1205Ala | |
| XR_002956289.1:n.4005A>G | ||
| NM_001363725.2:c.1462A>G | NP_001350654.1:p.Thr488Ala | |
| NM_001371656.1:c.3841A>G | NP_001358585.1:p.Thr1281Ala | |
| NM_001374820.1:c.3841A>G | NP_001361749.1:p.Thr1281Ala | |
| NM_001374828.1:c.3961A>G MANE Select | NP_001361757.1:p.Thr1321Ala | |
| NM_017519.3:c.3802A>G | NP_059989.3:p.Thr1268Ala |