Linked Data
ClinVar Variation Id:
642509
dbSNP Id:
rs199837195
ExAC:
8:100711753 C / T
gnomAD v2:
8-100711753-C-T
gnomAD v3:
8-99699525-C-T
gnomAD v4:
8-99699525-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99699525C>T , CM000670.2:g.99699525C>T | GRCh38 |
| NC_000008.10:g.100711753C>T , CM000670.1:g.100711753C>T | GRCh37 |
| NC_000008.9:g.100780929C>T | NCBI36 |
| NG_007098.2:g.691260C>T , LRG_351:g.691260C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682153.1:c.6122C>T | ENSP00000507923.1:p.Ala2041Val | |
| ENST00000682358.1:n.6192C>T | ||
| ENST00000683334.1:c.*1804C>T | ENSP00000507369.1:n.*1804C>T | |
| ENST00000357162.7:c.6047C>T MANE Select | ENSP00000349685.2:p.Ala2016Val | |
| ENST00000358544.7:c.6122C>T MANE Plus Clinical | ENSP00000351346.2:p.Ala2041Val | |
| ENST00000357162.6:c.6047C>T | ENSP00000349685.2:p.Ala2016Val | |
| ENST00000358544.6:c.6122C>T | ENSP00000351346.2:p.Ala2041Val | |
| NM_017890.4:c.6122C>T , LRG_351t1:c.6122C>T | NP_060360.3:p.Ala2041Val | |
| NM_152564.4:c.6047C>T , LRG_351t2:c.6047C>T | NP_689777.3:p.Ala2016Val | |
| XM_005250800.2:c.6122C>T | XP_005250857.1:p.Ala2041Val | |
| XM_005250801.3:c.6122C>T | XP_005250858.1:p.Ala2041Val | |
| XM_011516848.1:c.6119C>T | XP_011515150.1:p.Ala2040Val | |
| XM_011516849.1:c.6044C>T | XP_011515151.1:p.Ala2015Val | |
| XM_011516850.1:c.5744C>T | XP_011515152.1:p.Ala1915Val | |
| XM_011516851.1:c.3008C>T | XP_011515153.1:p.Ala1003Val | |
| XM_011516852.1:c.3008C>T | XP_011515154.1:p.Ala1003Val | |
| XM_011516853.1:c.6122C>T | XP_011515155.1:p.Ala2041Val | |
| XM_011516854.1:c.1901C>T | XP_011515156.1:p.Ala634Val | |
| XM_005250800.3:c.6122C>T | XP_005250857.1:p.Ala2041Val | |
| XM_005250801.5:c.6122C>T | XP_005250858.1:p.Ala2041Val | |
| XM_011516848.2:c.6119C>T | XP_011515150.1:p.Ala2040Val | |
| XM_011516849.2:c.6044C>T | XP_011515151.1:p.Ala2015Val | |
| XM_011516850.2:c.5744C>T | XP_011515152.1:p.Ala1915Val | |
| XM_011516851.2:c.3008C>T | XP_011515153.1:p.Ala1003Val | |
| XM_011516852.2:c.3008C>T | XP_011515154.1:p.Ala1003Val | |
| XM_011516853.2:c.6122C>T | XP_011515155.1:p.Ala2041Val | |
| XM_011516854.2:c.1901C>T | XP_011515156.1:p.Ala634Val | |
| XM_017013109.1:c.5927C>T | XP_016868598.1:p.Ala1976Val | |
| XM_017013111.1:c.3008C>T | XP_016868600.1:p.Ala1003Val | |
| XM_017013112.1:c.1679C>T | XP_016868601.1:p.Ala560Val | |
| XM_024447074.1:c.4907C>T | XP_024302842.1:p.Ala1636Val | |
| XR_001745482.2:n.6083C>T | ||
| NM_017890.5:c.6122C>T MANE Plus Clinical | NP_060360.3:p.Ala2041Val | |
| NM_152564.5:c.6047C>T MANE Select | NP_689777.3:p.Ala2016Val |