Linked Data
ClinVar Variation Id:
6464
ClinVar RCV Id:
RCV000006835
dbSNP Id:
rs121434408
gnomAD v2:
9-131300337-G-A
gnomAD v3:
9-128538058-G-A
gnomAD v4:
9-128538058-G-A
PubMed:
PMID:18204449
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128538058G>A , CM000671.2:g.128538058G>A | GRCh38 |
| NC_000009.11:g.131300337G>A , CM000671.1:g.131300337G>A | GRCh37 |
| NC_000009.10:g.130340158G>A | NCBI36 |
| NG_012073.1:g.38367G>A , LRG_484:g.38367G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683044.1:c.*920G>A | ENSP00000507095.1:n.*920G>A | |
| ENST00000683288.1:c.*1848G>A | ENSP00000507477.1:n.*1848G>A | |
| ENST00000683748.1:c.1876G>A | ENSP00000507377.1:p.Val626Met | |
| ENST00000683905.1:c.*525G>A | ENSP00000506960.1:n.*525G>A | |
| ENST00000684139.1:c.1384G>A | ENSP00000507295.1:p.Val462Met | |
| ENST00000684210.1:n.1562G>A | ||
| ENST00000684314.1:c.1777-1558G>A | ENSP00000507700.1:n.1777-1558G>A | |
| ENST00000684331.1:c.1849G>A | ENSP00000507431.1:p.Val617Met | |
| ENST00000684463.1:n.487G>A | ||
| ENST00000684646.1:c.1636G>A | ENSP00000507723.1:p.Val546Met | |
| ENST00000309971.9:c.1849G>A MANE Select | ENSP00000308622.5:p.Val617Met | |
| ENST00000309971.8:c.1849G>A | ENSP00000308622.4:p.Val617Met | |
| ENST00000372770.4:c.1849G>A | ENSP00000361856.4:p.Val617Met | |
| NM_001003722.1:c.1849G>A , LRG_484t1:c.1849G>A | NP_001003722.1:p.Val617Met | |
| NM_001499.2:c.1849G>A , LRG_484t2:c.1849G>A | NP_001490.1:p.Val617Met | |
| XM_006717059.2:c.1885G>A | XP_006717122.1:p.Val629Met | |
| XM_006717060.2:c.1858G>A | XP_006717123.1:p.Val620Met | |
| XM_011518549.1:c.1885G>A | XP_011516851.1:p.Val629Met | |
| XM_011518550.1:c.1885G>A | XP_011516852.1:p.Val629Met | |
| XM_011518551.1:c.1876G>A | XP_011516853.1:p.Val626Met | |
| XM_011518552.1:c.1126G>A | XP_011516854.1:p.Val376Met | |
| XR_242681.3:n.101-1103C>T | ||
| XR_428600.2:n.125-1103C>T | ||
| XM_006717059.3:c.1885G>A | XP_006717122.1:p.Val629Met | |
| XM_006717060.3:c.1858G>A | XP_006717123.1:p.Val620Met | |
| XM_011518551.2:c.1876G>A | XP_011516853.1:p.Val626Met | |
| XM_024447519.1:c.1858G>A | XP_024303287.1:p.Val620Met | |
| XR_428600.3:n.127-1103C>T | ||
| NM_001003722.2:c.1849G>A MANE Select | NP_001003722.1:p.Val617Met |