Linked Data
ClinVar Variation Id:
68092
ClinVar RCV Id:
RCV000058905
dbSNP Id:
rs180177369
PubMed:
PMID:16648375
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99817659C>A , CM000670.2:g.99817659C>A | GRCh38 |
| NC_000008.10:g.100829887C>A , CM000670.1:g.100829887C>A | GRCh37 |
| NC_000008.9:g.100899063C>A | NCBI36 |
| NG_007098.2:g.809394C>A , LRG_351:g.809394C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.8292C>A | ENSP00000507923.1:p.Cys2764Ter | |
| ENST00000682358.1:n.8362C>A | ||
| ENST00000683334.1:c.*3974C>A | ENSP00000507369.1:n.*3974C>A | |
| ENST00000357162.7:c.8217C>A MANE Select | ENSP00000349685.2:p.Cys2739Ter | |
| ENST00000358544.7:c.8292C>A MANE Plus Clinical | ENSP00000351346.2:p.Cys2764Ter | |
| ENST00000357162.6:c.8217C>A | ENSP00000349685.2:p.Cys2739Ter | |
| ENST00000358544.6:c.8292C>A | ENSP00000351346.2:p.Cys2764Ter | |
| NM_017890.4:c.8292C>A , LRG_351t1:c.8292C>A | NP_060360.3:p.Cys2764Ter | |
| NM_152564.4:c.8217C>A , LRG_351t2:c.8217C>A | NP_689777.3:p.Cys2739Ter | |
| XM_005250800.2:c.8292C>A | XP_005250857.1:p.Cys2764Ter | |
| XM_005250801.3:c.8292C>A | XP_005250858.1:p.Cys2764Ter | |
| XM_011516848.1:c.8289C>A | XP_011515150.1:p.Cys2763Ter | |
| XM_011516849.1:c.8214C>A | XP_011515151.1:p.Cys2738Ter | |
| XM_011516850.1:c.7914C>A | XP_011515152.1:p.Cys2638Ter | |
| XM_011516851.1:c.5178C>A | XP_011515153.1:p.Cys1726Ter | |
| XM_011516852.1:c.5178C>A | XP_011515154.1:p.Cys1726Ter | |
| XM_011516854.1:c.4071C>A | XP_011515156.1:p.Cys1357Ter | |
| XM_005250800.3:c.8292C>A | XP_005250857.1:p.Cys2764Ter | |
| XM_005250801.5:c.8292C>A | XP_005250858.1:p.Cys2764Ter | |
| XM_011516848.2:c.8289C>A | XP_011515150.1:p.Cys2763Ter | |
| XM_011516849.2:c.8214C>A | XP_011515151.1:p.Cys2738Ter | |
| XM_011516850.2:c.7914C>A | XP_011515152.1:p.Cys2638Ter | |
| XM_011516851.2:c.5178C>A | XP_011515153.1:p.Cys1726Ter | |
| XM_011516852.2:c.5178C>A | XP_011515154.1:p.Cys1726Ter | |
| XM_011516854.2:c.4071C>A | XP_011515156.1:p.Cys1357Ter | |
| XM_017013109.1:c.8097C>A | XP_016868598.1:p.Cys2699Ter | |
| XM_017013111.1:c.5178C>A | XP_016868600.1:p.Cys1726Ter | |
| XM_017013112.1:c.3849C>A | XP_016868601.1:p.Cys1283Ter | |
| XM_024447074.1:c.7077C>A | XP_024302842.1:p.Cys2359Ter | |
| NM_017890.5:c.8292C>A MANE Plus Clinical | NP_060360.3:p.Cys2764Ter | |
| NM_152564.5:c.8217C>A MANE Select | NP_689777.3:p.Cys2739Ter |