Linked Data
ClinVar Variation Id:
2267294
ClinVar RCV Id:
RCV002803987
dbSNP Id:
rs867916302
gnomAD v3:
8-133133573-A-G
gnomAD v4:
8-133133573-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133573A>G , CM000670.2:g.133133573A>G | GRCh38 |
| NC_000008.10:g.134145817A>G , CM000670.1:g.134145817A>G | GRCh37 |
| NC_000008.9:g.134214999A>G | NCBI36 |
| NG_015832.1:g.271613A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8101A>G MANE Select | ENSP00000220616.4:p.Ser2701Gly | |
| ENST00000220616.8:c.8101A>G | ENSP00000220616.4:p.Ser2701Gly | |
| ENST00000519178.5:c.3467A>G | ||
| ENST00000519543.5:c.2500A>G | ENSP00000430430.1:p.Ser834Gly | |
| ENST00000521107.1:c.313A>G | ENSP00000430161.1:p.Ser105Gly | |
| ENST00000522691.1:n.187A>G | ||
| ENST00000523756.5:c.4756A>G | ||
| NM_003235.4:c.8101A>G | NP_003226.4:p.Ser2701Gly | |
| XM_005251038.3:c.7909A>G | XP_005251095.1:p.Ser2637Gly | |
| XM_006716622.2:c.8038A>G | XP_006716685.1:p.Ser2680Gly | |
| XM_005251038.4:c.7909A>G | XP_005251095.1:p.Ser2637Gly | |
| XM_006716622.3:c.8038A>G | XP_006716685.1:p.Ser2680Gly | |
| XM_017013793.1:c.8035A>G | XP_016869282.1:p.Ser2679Gly | |
| XM_017013794.1:c.7966A>G | XP_016869283.1:p.Ser2656Gly | |
| XM_017013795.1:c.7930A>G | XP_016869284.1:p.Ser2644Gly | |
| XM_017013796.1:c.7882A>G | XP_016869285.1:p.Ser2628Gly | |
| XM_017013797.1:c.7840A>G | XP_016869286.1:p.Ser2614Gly | |
| NM_003235.5:c.8101A>G MANE Select | NP_003226.4:p.Ser2701Gly |