Linked Data
ClinVar Variation Id:
2705146
ClinVar RCV Id:
RCV003575280
dbSNP Id:
rs1852103901
MyVariant Identifiers:
chr8:g.134145753C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133509C>T , CM000670.2:g.133133509C>T | GRCh38 |
| NC_000008.10:g.134145753C>T , CM000670.1:g.134145753C>T | GRCh37 |
| NC_000008.9:g.134214935C>T | NCBI36 |
| NG_015832.1:g.271549C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.8037C>T MANE Select | ENSP00000220616.4:p.Pro2679= | |
| ENST00000220616.8:c.8037C>T | ENSP00000220616.4:p.Pro2679= | |
| ENST00000519178.5:c.3403C>T | ||
| ENST00000519543.5:c.2436C>T | ENSP00000430430.1:p.Pro812= | |
| ENST00000521107.1:c.249C>T | ENSP00000430161.1:p.Pro83= | |
| ENST00000522691.1:n.123C>T | ||
| ENST00000523756.5:c.4692C>T | ||
| NM_003235.4:c.8037C>T | NP_003226.4:p.Pro2679= | |
| XM_005251038.3:c.7845C>T | XP_005251095.1:p.Pro2615= | |
| XM_006716622.2:c.7974C>T | XP_006716685.1:p.Pro2658= | |
| XM_005251038.4:c.7845C>T | XP_005251095.1:p.Pro2615= | |
| XM_006716622.3:c.7974C>T | XP_006716685.1:p.Pro2658= | |
| XM_017013793.1:c.7971C>T | XP_016869282.1:p.Pro2657= | |
| XM_017013794.1:c.7902C>T | XP_016869283.1:p.Pro2634= | |
| XM_017013795.1:c.7866C>T | XP_016869284.1:p.Pro2622= | |
| XM_017013796.1:c.7818C>T | XP_016869285.1:p.Pro2606= | |
| XM_017013797.1:c.7776C>T | XP_016869286.1:p.Pro2592= | |
| NM_003235.5:c.8037C>T MANE Select | NP_003226.4:p.Pro2679= |