Linked Data
ClinVar Variation Id:
2900763
ClinVar RCV Id:
RCV003728925
dbSNP Id:
rs1852105158
MyVariant Identifiers:
chr8:g.134145762A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133518A>C , CM000670.2:g.133133518A>C | GRCh38 |
| NC_000008.10:g.134145762A>C , CM000670.1:g.134145762A>C | GRCh37 |
| NC_000008.9:g.134214944A>C | NCBI36 |
| NG_015832.1:g.271558A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8046A>C MANE Select | ENSP00000220616.4:p.Ala2682= | |
| ENST00000220616.8:c.8046A>C | ENSP00000220616.4:p.Ala2682= | |
| ENST00000519178.5:c.3412A>C | ||
| ENST00000519543.5:c.2445A>C | ENSP00000430430.1:p.Ala815= | |
| ENST00000521107.1:c.258A>C | ENSP00000430161.1:p.Ala86= | |
| ENST00000522691.1:n.132A>C | ||
| ENST00000523756.5:c.4701A>C | ||
| NM_003235.4:c.8046A>C | NP_003226.4:p.Ala2682= | |
| XM_005251038.3:c.7854A>C | XP_005251095.1:p.Ala2618= | |
| XM_006716622.2:c.7983A>C | XP_006716685.1:p.Ala2661= | |
| XM_005251038.4:c.7854A>C | XP_005251095.1:p.Ala2618= | |
| XM_006716622.3:c.7983A>C | XP_006716685.1:p.Ala2661= | |
| XM_017013793.1:c.7980A>C | XP_016869282.1:p.Ala2660= | |
| XM_017013794.1:c.7911A>C | XP_016869283.1:p.Ala2637= | |
| XM_017013795.1:c.7875A>C | XP_016869284.1:p.Ala2625= | |
| XM_017013796.1:c.7827A>C | XP_016869285.1:p.Ala2609= | |
| XM_017013797.1:c.7785A>C | XP_016869286.1:p.Ala2595= | |
| NM_003235.5:c.8046A>C MANE Select | NP_003226.4:p.Ala2682= |