Linked Data
ClinVar Variation Id:
53747
dbSNP Id:
rs397508567
ExAC:
7:117254757 T / A
gnomAD v2:
7-117254757-T-A
gnomAD v3:
7-117614703-T-A
gnomAD v4:
7-117614703-T-A
PubMed:
PMID:17329263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614703T>A , CM000669.2:g.117614703T>A | GRCh38 |
| NC_000007.13:g.117254757T>A , CM000669.1:g.117254757T>A | GRCh37 |
| NC_000007.12:g.117041993T>A | NCBI36 |
| NG_016465.4:g.153920T>A , LRG_663:g.153920T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3458T>A | ENSP00000497673.2:p.Val1153Glu | |
| ENST00000647978.2:c.*3172T>A | ENSP00000497658.1:n.*3172T>A | |
| ENST00000649781.2:c.3275T>A | ENSP00000497203.1:p.Val1092Glu | |
| ENST00000685018.2:c.3458T>A | ENSP00000510194.2:p.Val1153Glu | |
| ENST00000687278.2:c.3458T>A | ENSP00000509593.2:p.Val1153Glu | |
| ENST00000699585.1:c.3458T>A | ENSP00000514456.1:p.Val1153Glu | |
| ENST00000699598.1:c.3458T>A | ENSP00000514467.1:p.Val1153Glu | |
| ENST00000699599.1:c.3458T>A | ENSP00000514468.1:p.Val1153Glu | |
| ENST00000699600.1:c.3458T>A | ENSP00000514469.1:p.Val1153Glu | |
| ENST00000699601.1:c.*1833T>A | ENSP00000514470.1:n.*1833T>A | |
| ENST00000699602.1:c.3452T>A | ENSP00000514471.1:p.Val1151Glu | |
| ENST00000699604.1:c.*3282T>A | ENSP00000514472.1:n.*3282T>A | |
| ENST00000699605.1:c.3032T>A | ENSP00000514473.1:p.Val1011Glu | |
| ENST00000685018.1:c.206T>A | ENSP00000510194.1:p.Val69Glu | |
| ENST00000687278.1:c.1049T>A | ENSP00000509593.1:p.Val350Glu | |
| ENST00000689011.1:c.40T>A | ||
| ENST00000003084.11:c.3458T>A MANE Select | ENSP00000003084.6:p.Val1153Glu | |
| ENST00000647720.1:c.1108T>A | ||
| ENST00000648260.1:c.2240T>A | ENSP00000497957.1:p.Val747Glu | |
| ENST00000649406.1:c.3275T>A | ENSP00000497965.1:p.Val1092Glu | |
| ENST00000649781.1:c.3275T>A | ENSP00000497203.1:p.Val1092Glu | |
| ENST00000003084.10:c.3458T>A | ENSP00000003084.6:p.Val1153Glu | |
| ENST00000426809.5:c.3368T>A | ENSP00000389119.1:p.Val1123Glu | |
| ENST00000468795.1:c.283T>A | ||
| NM_000492.3:c.3458T>A , LRG_663t1:c.3458T>A | NP_000483.3:p.Val1153Glu | |
| XM_011515751.1:c.3548T>A | XP_011514053.1:p.Val1183Glu | |
| XM_011515752.1:c.3548T>A | XP_011514054.1:p.Val1183Glu | |
| XM_011515753.1:c.3215T>A | XP_011514055.1:p.Val1072Glu | |
| XM_011515754.1:c.3215T>A | XP_011514056.1:p.Val1072Glu | |
| NM_000492.4:c.3458T>A MANE Select | NP_000483.3:p.Val1153Glu |