Linked Data
ClinVar Variation Id:
2991733
ClinVar RCV Id:
RCV003852796
dbSNP Id:
rs763176811
ExAC:
8:134145786 C / G
gnomAD v2:
8-134145786-C-G
gnomAD v4:
8-133133542-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133542C>G , CM000670.2:g.133133542C>G | GRCh38 |
| NC_000008.10:g.134145786C>G , CM000670.1:g.134145786C>G | GRCh37 |
| NC_000008.9:g.134214968C>G | NCBI36 |
| NG_015832.1:g.271582C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8070C>G MANE Select | ENSP00000220616.4:p.Pro2690= | |
| ENST00000220616.8:c.8070C>G | ENSP00000220616.4:p.Pro2690= | |
| ENST00000519178.5:c.3436C>G | ||
| ENST00000519543.5:c.2469C>G | ENSP00000430430.1:p.Pro823= | |
| ENST00000521107.1:c.282C>G | ENSP00000430161.1:p.Pro94= | |
| ENST00000522691.1:n.156C>G | ||
| ENST00000523756.5:c.4725C>G | ||
| NM_003235.4:c.8070C>G | NP_003226.4:p.Pro2690= | |
| XM_005251038.3:c.7878C>G | XP_005251095.1:p.Pro2626= | |
| XM_006716622.2:c.8007C>G | XP_006716685.1:p.Pro2669= | |
| XM_005251038.4:c.7878C>G | XP_005251095.1:p.Pro2626= | |
| XM_006716622.3:c.8007C>G | XP_006716685.1:p.Pro2669= | |
| XM_017013793.1:c.8004C>G | XP_016869282.1:p.Pro2668= | |
| XM_017013794.1:c.7935C>G | XP_016869283.1:p.Pro2645= | |
| XM_017013795.1:c.7899C>G | XP_016869284.1:p.Pro2633= | |
| XM_017013796.1:c.7851C>G | XP_016869285.1:p.Pro2617= | |
| XM_017013797.1:c.7809C>G | XP_016869286.1:p.Pro2603= | |
| NM_003235.5:c.8070C>G MANE Select | NP_003226.4:p.Pro2690= |