Linked Data
ClinVar Variation Id:
65674
ClinVar RCV Id:
RCV000055900
dbSNP Id:
rs397515547
gnomAD v4:
7-148809376-C-T
PubMed:
PMID:23865096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148809376C>T , CM000669.2:g.148809376C>T | GRCh38 |
| NC_000007.13:g.148506468C>T , CM000669.1:g.148506468C>T | GRCh37 |
| NC_000007.12:g.148137401C>T | NCBI36 |
| NG_032043.1:g.79974G>A , LRG_531:g.79974G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682263.1:n.3944G>A | ||
| ENST00000682317.1:c.*1106G>A | ENSP00000508286.1:n.*1106G>A | |
| ENST00000683292.1:c.*940G>A | ENSP00000507503.1:n.*940G>A | |
| ENST00000683293.1:n.3763G>A | ||
| ENST00000683744.1:c.*1106G>A | ENSP00000506949.1:n.*1106G>A | |
| ENST00000684300.1:c.*1106G>A | ENSP00000508407.1:n.*1106G>A | |
| ENST00000684400.1:n.3877G>A | ||
| ENST00000684436.1:n.2360G>A | ||
| ENST00000684510.1:n.2422G>A | ||
| ENST00000320356.7:c.2044G>A MANE Select | ENSP00000320147.2:p.Ala682Thr | |
| ENST00000320356.6:c.2044G>A | ENSP00000320147.2:p.Ala682Thr | |
| ENST00000350995.6:c.1912G>A | ENSP00000223193.2:p.Ala638Thr | |
| ENST00000460911.5:c.2029G>A | ENSP00000419711.1:p.Ala677Thr | |
| ENST00000476773.5:c.1876G>A | ENSP00000419050.1:p.Ala626Thr | |
| ENST00000478654.5:c.1876G>A | ENSP00000417062.1:p.Ala626Thr | |
| ENST00000483967.5:c.2002G>A | ENSP00000419856.1:p.Ala668Thr | |
| ENST00000492143.5:c.*2034G>A | ENSP00000417377.1:n.*2034G>A | |
| NM_001203247.1:c.2029G>A | NP_001190176.1:p.Ala677Thr | |
| NM_001203248.1:c.2002G>A | NP_001190177.1:p.Ala668Thr | |
| NM_001203249.1:c.1876G>A | NP_001190178.1:p.Ala626Thr | |
| NM_004456.4:c.2044G>A , LRG_531t1:c.2044G>A | NP_004447.2:p.Ala682Thr | |
| NM_152998.2:c.1912G>A | NP_694543.1:p.Ala638Thr | |
| XM_005249962.3:c.2053G>A | XP_005250019.1:p.Ala685Thr | |
| XM_005249963.3:c.2026G>A | XP_005250020.1:p.Ala676Thr | |
| XM_005249964.3:c.1900G>A | XP_005250021.1:p.Ala634Thr | |
| XM_011515883.1:c.2068G>A | XP_011514185.1:p.Ala690Thr | |
| XM_011515884.1:c.2044G>A | XP_011514186.1:p.Ala682Thr | |
| XM_011515885.1:c.2041G>A | XP_011514187.1:p.Ala681Thr | |
| XM_011515886.1:c.2020G>A | XP_011514188.1:p.Ala674Thr | |
| XM_011515887.1:c.2017G>A | XP_011514189.1:p.Ala673Thr | |
| XM_011515888.1:c.2017G>A | XP_011514190.1:p.Ala673Thr | |
| XM_011515889.1:c.1978G>A | XP_011514191.1:p.Ala660Thr | |
| XM_011515890.1:c.1951G>A | XP_011514192.1:p.Ala651Thr | |
| XM_011515891.1:c.1945G>A | XP_011514193.1:p.Ala649Thr | |
| XM_011515892.1:c.1942G>A | XP_011514194.1:p.Ala648Thr | |
| XM_011515893.1:c.1936G>A | XP_011514195.1:p.Ala646Thr | |
| XM_011515894.1:c.1927G>A | XP_011514196.1:p.Ala643Thr | |
| XM_011515895.1:c.1924G>A | XP_011514197.1:p.Ala642Thr | |
| XM_011515896.1:c.1810G>A | XP_011514198.1:p.Ala604Thr | |
| XM_011515897.1:c.1717G>A | XP_011514199.1:p.Ala573Thr | |
| XM_011515898.1:c.1717G>A | XP_011514200.1:p.Ala573Thr | |
| XR_928101.1:n.515+4291C>T | ||
| XR_928102.1:n.722+4291C>T | ||
| XM_005249962.4:c.2053G>A | XP_005250019.1:p.Ala685Thr | |
| XM_005249963.4:c.2026G>A | XP_005250020.1:p.Ala676Thr | |
| XM_005249964.4:c.1900G>A | XP_005250021.1:p.Ala634Thr | |
| XM_011515883.2:c.2068G>A | XP_011514185.1:p.Ala690Thr | |
| XM_011515884.2:c.2044G>A | XP_011514186.1:p.Ala682Thr | |
| XM_011515885.2:c.2041G>A | XP_011514187.1:p.Ala681Thr | |
| XM_011515886.2:c.2020G>A | XP_011514188.1:p.Ala674Thr | |
| XM_011515887.3:c.2017G>A | XP_011514189.1:p.Ala673Thr | |
| XM_011515888.2:c.2017G>A | XP_011514190.1:p.Ala673Thr | |
| XM_011515889.2:c.1978G>A | XP_011514191.1:p.Ala660Thr | |
| XM_011515890.2:c.1951G>A | XP_011514192.1:p.Ala651Thr | |
| XM_011515891.3:c.1945G>A | XP_011514193.1:p.Ala649Thr | |
| XM_011515892.2:c.1942G>A | XP_011514194.1:p.Ala648Thr | |
| XM_011515893.2:c.1936G>A | XP_011514195.1:p.Ala646Thr | |
| XM_011515894.2:c.1927G>A | XP_011514196.1:p.Ala643Thr | |
| XM_011515895.2:c.1924G>A | XP_011514197.1:p.Ala642Thr | |
| XM_011515896.2:c.1810G>A | XP_011514198.1:p.Ala604Thr | |
| XM_011515897.2:c.1717G>A | XP_011514199.1:p.Ala573Thr | |
| XM_011515898.2:c.1717G>A | XP_011514200.1:p.Ala573Thr | |
| XM_017011817.2:c.2068G>A | XP_016867306.1:p.Ala690Thr | |
| XM_017011818.1:c.2005G>A | XP_016867307.1:p.Ala669Thr | |
| XM_017011819.1:c.1927G>A | XP_016867308.1:p.Ala643Thr | |
| XM_017011820.2:c.1900G>A | XP_016867309.1:p.Ala634Thr | |
| XM_017011821.1:c.1702G>A | XP_016867310.1:p.Ala568Thr | |
| XM_024446680.1:c.1930G>A | XP_024302448.1:p.Ala644Thr | |
| XR_001744581.1:n.4418G>A | ||
| XR_002956413.1:n.5074G>A | ||
| XR_002956414.1:n.5534G>A | ||
| NM_001203247.2:c.2029G>A | NP_001190176.1:p.Ala677Thr | |
| NM_001203248.2:c.2002G>A | NP_001190177.1:p.Ala668Thr | |
| NM_001203249.2:c.1876G>A | NP_001190178.1:p.Ala626Thr | |
| NM_004456.5:c.2044G>A MANE Select | NP_004447.2:p.Ala682Thr | |
| NM_152998.3:c.1912G>A | NP_694543.1:p.Ala638Thr |