Linked Data
ClinVar Variation Id:
7061
ClinVar RCV Id:
RCV000007477
dbSNP Id:
rs267606996
PubMed:
PMID:20512159
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135133944C>A , CM000664.2:g.135133944C>A | GRCh38 |
| NC_000002.11:g.135891514C>A , CM000664.1:g.135891514C>A | GRCh37 |
| NC_000002.10:g.135607984C>A | NCBI36 |
| NG_016972.1:g.86680C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539493.3:c.1410C>A | ENSP00000444306.2:p.Tyr470Ter | |
| ENST00000685967.1:c.*867C>A | ENSP00000508423.1:n.*867C>A | |
| ENST00000686114.1:n.1756C>A | ||
| ENST00000687199.1:c.*1478C>A | ENSP00000510319.1:n.*1478C>A | |
| ENST00000688088.1:n.1429C>A | ||
| ENST00000688182.1:c.151-33749C>A | ENSP00000509324.1:n.151-33749C>A | |
| ENST00000689880.1:n.1429C>A | ||
| ENST00000690208.1:c.*1088C>A | ENSP00000510746.1:n.*1088C>A | |
| ENST00000690785.1:n.1429C>A | ||
| ENST00000691339.1:c.*1033C>A | ENSP00000509953.1:n.*1033C>A | |
| ENST00000691478.1:c.*1509C>A | ENSP00000509081.1:n.*1509C>A | |
| ENST00000693554.1:c.1410C>A | ENSP00000509030.1:p.Tyr470Ter | |
| ENST00000264158.13:c.1410C>A MANE Select | ENSP00000264158.8:p.Tyr470Ter | |
| ENST00000264158.12:c.1410C>A | ENSP00000264158.7:p.Tyr470Ter | |
| ENST00000442034.5:c.1410C>A | ENSP00000411418.1:p.Tyr470Ter | |
| ENST00000487003.5:n.1479C>A | ||
| ENST00000539493.2:c.1278C>A | ENSP00000444306.1:p.Tyr426Ter | |
| NM_001172435.1:c.1410C>A | NP_001165906.1:p.Tyr470Ter | |
| NM_012233.2:c.1410C>A | NP_036365.1:p.Tyr470Ter | |
| XM_011510822.1:c.1410C>A | XP_011509124.1:p.Tyr470Ter | |
| XM_011510823.1:c.1410C>A | XP_011509125.1:p.Tyr470Ter | |
| XM_011510824.1:c.1410C>A | XP_011509126.1:p.Tyr470Ter | |
| XM_011510825.1:c.1410C>A | XP_011509127.1:p.Tyr470Ter | |
| XM_011510823.3:c.1410C>A | XP_011509125.1:p.Tyr470Ter | |
| XM_011510825.3:c.1410C>A | XP_011509127.1:p.Tyr470Ter | |
| XR_001738674.2:n.1437C>A | ||
| NM_001172435.2:c.1410C>A | NP_001165906.1:p.Tyr470Ter | |
| NM_012233.3:c.1410C>A MANE Select | NP_036365.1:p.Tyr470Ter |