Linked Data
ClinVar Variation Id:
1082100
ClinVar RCV Id:
RCV001398273
dbSNP Id:
rs2130941863
MyVariant Identifiers:
chr8:g.100874083C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99861855C>T , CM000670.2:g.99861855C>T | GRCh38 |
| NC_000008.10:g.100874083C>T , CM000670.1:g.100874083C>T | GRCh37 |
| NC_000008.9:g.100943259C>T | NCBI36 |
| NG_007098.2:g.853590C>T , LRG_351:g.853590C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.*293C>T | ENSP00000507923.1:n.*293C>T | |
| ENST00000682358.1:n.11269C>T | ||
| ENST00000683334.1:c.*6881C>T | ENSP00000507369.1:n.*6881C>T | |
| ENST00000357162.7:c.11124C>T MANE Select | ENSP00000349685.2:p.Tyr3708= | |
| ENST00000358544.7:c.11199C>T MANE Plus Clinical | ENSP00000351346.2:p.Tyr3733= | |
| ENST00000357162.6:c.11124C>T | ENSP00000349685.2:p.Tyr3708= | |
| ENST00000358544.6:c.11199C>T | ENSP00000351346.2:p.Tyr3733= | |
| NM_017890.4:c.11199C>T , LRG_351t1:c.11199C>T | NP_060360.3:p.Tyr3733= | |
| NM_152564.4:c.11124C>T , LRG_351t2:c.11124C>T | NP_689777.3:p.Tyr3708= | |
| XM_005250800.2:c.11199C>T | XP_005250857.1:p.Tyr3733= | |
| XM_005250801.3:c.11199C>T | XP_005250858.1:p.Tyr3733= | |
| XM_011516848.1:c.11196C>T | XP_011515150.1:p.Tyr3732= | |
| XM_011516849.1:c.11121C>T | XP_011515151.1:p.Tyr3707= | |
| XM_011516850.1:c.10821C>T | XP_011515152.1:p.Tyr3607= | |
| XM_011516851.1:c.8085C>T | XP_011515153.1:p.Tyr2695= | |
| XM_011516852.1:c.8085C>T | XP_011515154.1:p.Tyr2695= | |
| XM_011516854.1:c.6978C>T | XP_011515156.1:p.Tyr2326= | |
| XM_005250800.3:c.11199C>T | XP_005250857.1:p.Tyr3733= | |
| XM_005250801.5:c.11199C>T | XP_005250858.1:p.Tyr3733= | |
| XM_011516848.2:c.11196C>T | XP_011515150.1:p.Tyr3732= | |
| XM_011516849.2:c.11121C>T | XP_011515151.1:p.Tyr3707= | |
| XM_011516850.2:c.10821C>T | XP_011515152.1:p.Tyr3607= | |
| XM_011516851.2:c.8085C>T | XP_011515153.1:p.Tyr2695= | |
| XM_011516852.2:c.8085C>T | XP_011515154.1:p.Tyr2695= | |
| XM_011516854.2:c.6978C>T | XP_011515156.1:p.Tyr2326= | |
| XM_017013109.1:c.11004C>T | XP_016868598.1:p.Tyr3668= | |
| XM_017013111.1:c.8085C>T | XP_016868600.1:p.Tyr2695= | |
| XM_017013112.1:c.6756C>T | XP_016868601.1:p.Tyr2252= | |
| XM_024447074.1:c.9984C>T | XP_024302842.1:p.Tyr3328= | |
| NM_017890.5:c.11199C>T MANE Plus Clinical | NP_060360.3:p.Tyr3733= | |
| NM_152564.5:c.11124C>T MANE Select | NP_689777.3:p.Tyr3708= |