Linked Data
ClinVar Variation Id:
3176627
ClinVar RCV Id:
RCV004474487
dbSNP Id:
rs143950166
ExAC:
8:134145836 G / A
gnomAD v2:
8-134145836-G-A
gnomAD v3:
8-133133592-G-A
gnomAD v4:
8-133133592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133592G>A , CM000670.2:g.133133592G>A | GRCh38 |
| NC_000008.10:g.134145836G>A , CM000670.1:g.134145836G>A | GRCh37 |
| NC_000008.9:g.134215018G>A | NCBI36 |
| NG_015832.1:g.271632G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8120G>A MANE Select | ENSP00000220616.4:p.Arg2707Gln | |
| ENST00000220616.8:c.8120G>A | ENSP00000220616.4:p.Arg2707Gln | |
| ENST00000519178.5:c.3486G>A | ||
| ENST00000519543.5:c.2519G>A | ENSP00000430430.1:p.Arg840Gln | |
| ENST00000521107.1:c.332G>A | ENSP00000430161.1:p.Arg111Gln | |
| ENST00000522691.1:n.206G>A | ||
| ENST00000523756.5:c.4775G>A | ||
| NM_003235.4:c.8120G>A | NP_003226.4:p.Arg2707Gln | |
| XM_005251038.3:c.7928G>A | XP_005251095.1:p.Arg2643Gln | |
| XM_006716622.2:c.8057G>A | XP_006716685.1:p.Arg2686Gln | |
| XM_005251038.4:c.7928G>A | XP_005251095.1:p.Arg2643Gln | |
| XM_006716622.3:c.8057G>A | XP_006716685.1:p.Arg2686Gln | |
| XM_017013793.1:c.8054G>A | XP_016869282.1:p.Arg2685Gln | |
| XM_017013794.1:c.7985G>A | XP_016869283.1:p.Arg2662Gln | |
| XM_017013795.1:c.7949G>A | XP_016869284.1:p.Arg2650Gln | |
| XM_017013796.1:c.7901G>A | XP_016869285.1:p.Arg2634Gln | |
| XM_017013797.1:c.7859G>A | XP_016869286.1:p.Arg2620Gln | |
| NM_003235.5:c.8120G>A MANE Select | NP_003226.4:p.Arg2707Gln |