Linked Data
dbSNP Id:
rs756744668
ExAC:
8:134145895 A / G
gnomAD v2:
8-134145895-A-G
gnomAD v3:
8-133133651-A-G
gnomAD v4:
8-133133651-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133651A>G , CM000670.2:g.133133651A>G | GRCh38 |
| NC_000008.10:g.134145895A>G , CM000670.1:g.134145895A>G | GRCh37 |
| NC_000008.9:g.134215077A>G | NCBI36 |
| NG_015832.1:g.271691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8179A>G MANE Select | ENSP00000220616.4:p.Thr2727Ala | |
| ENST00000220616.8:c.8179A>G | ENSP00000220616.4:p.Thr2727Ala | |
| ENST00000519178.5:c.3545A>G | ||
| ENST00000519543.5:c.2578A>G | ENSP00000430430.1:p.Thr860Ala | |
| ENST00000521107.1:c.391A>G | ENSP00000430161.1:p.Thr131Ala | |
| ENST00000522691.1:n.265A>G | ||
| ENST00000523756.5:c.4834A>G | ||
| NM_003235.4:c.8179A>G | NP_003226.4:p.Thr2727Ala | |
| XM_005251038.3:c.7987A>G | XP_005251095.1:p.Thr2663Ala | |
| XM_006716622.2:c.8116A>G | XP_006716685.1:p.Thr2706Ala | |
| XM_005251038.4:c.7987A>G | XP_005251095.1:p.Thr2663Ala | |
| XM_006716622.3:c.8116A>G | XP_006716685.1:p.Thr2706Ala | |
| XM_017013793.1:c.8113A>G | XP_016869282.1:p.Thr2705Ala | |
| XM_017013794.1:c.8044A>G | XP_016869283.1:p.Thr2682Ala | |
| XM_017013795.1:c.8008A>G | XP_016869284.1:p.Thr2670Ala | |
| XM_017013796.1:c.7960A>G | XP_016869285.1:p.Thr2654Ala | |
| XM_017013797.1:c.7918A>G | XP_016869286.1:p.Thr2640Ala | |
| NM_003235.5:c.8179A>G MANE Select | NP_003226.4:p.Thr2727Ala |