Linked Data
dbSNP Id:
rs1564225183
gnomAD v4:
8-133133539-A-G
MyVariant Identifiers:
chr8:g.134145783A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133539A>G , CM000670.2:g.133133539A>G | GRCh38 |
| NC_000008.10:g.134145783A>G , CM000670.1:g.134145783A>G | GRCh37 |
| NC_000008.9:g.134214965A>G | NCBI36 |
| NG_015832.1:g.271579A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8067A>G MANE Select | ENSP00000220616.4:p.Val2689= | |
| ENST00000220616.8:c.8067A>G | ENSP00000220616.4:p.Val2689= | |
| ENST00000519178.5:c.3433A>G | ||
| ENST00000519543.5:c.2466A>G | ENSP00000430430.1:p.Val822= | |
| ENST00000521107.1:c.279A>G | ENSP00000430161.1:p.Val93= | |
| ENST00000522691.1:n.153A>G | ||
| ENST00000523756.5:c.4722A>G | ||
| NM_003235.4:c.8067A>G | NP_003226.4:p.Val2689= | |
| XM_005251038.3:c.7875A>G | XP_005251095.1:p.Val2625= | |
| XM_006716622.2:c.8004A>G | XP_006716685.1:p.Val2668= | |
| XM_005251038.4:c.7875A>G | XP_005251095.1:p.Val2625= | |
| XM_006716622.3:c.8004A>G | XP_006716685.1:p.Val2668= | |
| XM_017013793.1:c.8001A>G | XP_016869282.1:p.Val2667= | |
| XM_017013794.1:c.7932A>G | XP_016869283.1:p.Val2644= | |
| XM_017013795.1:c.7896A>G | XP_016869284.1:p.Val2632= | |
| XM_017013796.1:c.7848A>G | XP_016869285.1:p.Val2616= | |
| XM_017013797.1:c.7806A>G | XP_016869286.1:p.Val2602= | |
| NM_003235.5:c.8067A>G MANE Select | NP_003226.4:p.Val2689= |