Linked Data
ClinVar Variation Id:
439077
dbSNP Id:
rs375845215
ExAC:
7:117254728 G / A
gnomAD v2:
7-117254728-G-A
gnomAD v3:
7-117614674-G-A
gnomAD v4:
7-117614674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614674G>A , CM000669.2:g.117614674G>A | GRCh38 |
| NC_000007.13:g.117254728G>A , CM000669.1:g.117254728G>A | GRCh37 |
| NC_000007.12:g.117041964G>A | NCBI36 |
| NG_016465.4:g.153891G>A , LRG_663:g.153891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3429G>A | ENSP00000497673.2:p.Leu1143= | |
| ENST00000647978.2:c.*3143G>A | ENSP00000497658.1:n.*3143G>A | |
| ENST00000649781.2:c.3246G>A | ENSP00000497203.1:p.Leu1082= | |
| ENST00000685018.2:c.3429G>A | ENSP00000510194.2:p.Leu1143= | |
| ENST00000687278.2:c.3429G>A | ENSP00000509593.2:p.Leu1143= | |
| ENST00000699585.1:c.3429G>A | ENSP00000514456.1:p.Leu1143= | |
| ENST00000699598.1:c.3429G>A | ENSP00000514467.1:p.Leu1143= | |
| ENST00000699599.1:c.3429G>A | ENSP00000514468.1:p.Leu1143= | |
| ENST00000699600.1:c.3429G>A | ENSP00000514469.1:p.Leu1143= | |
| ENST00000699601.1:c.*1804G>A | ENSP00000514470.1:n.*1804G>A | |
| ENST00000699602.1:c.3423G>A | ENSP00000514471.1:p.Leu1141= | |
| ENST00000699604.1:c.*3253G>A | ENSP00000514472.1:n.*3253G>A | |
| ENST00000699605.1:c.3003G>A | ENSP00000514473.1:p.Leu1001= | |
| ENST00000685018.1:c.177G>A | ENSP00000510194.1:p.Leu59= | |
| ENST00000687278.1:c.1020G>A | ENSP00000509593.1:p.Leu340= | |
| ENST00000689011.1:c.11G>A | ||
| ENST00000003084.11:c.3429G>A MANE Select | ENSP00000003084.6:p.Leu1143= | |
| ENST00000647720.1:c.1079G>A | ||
| ENST00000648260.1:c.2211G>A | ENSP00000497957.1:p.Leu737= | |
| ENST00000649406.1:c.3246G>A | ENSP00000497965.1:p.Leu1082= | |
| ENST00000649781.1:c.3246G>A | ENSP00000497203.1:p.Leu1082= | |
| ENST00000003084.10:c.3429G>A | ENSP00000003084.6:p.Leu1143= | |
| ENST00000426809.5:c.3339G>A | ENSP00000389119.1:p.Leu1113= | |
| ENST00000468795.1:c.254G>A | ||
| NM_000492.3:c.3429G>A , LRG_663t1:c.3429G>A | NP_000483.3:p.Leu1143= | |
| XM_011515751.1:c.3519G>A | XP_011514053.1:p.Leu1173= | |
| XM_011515752.1:c.3519G>A | XP_011514054.1:p.Leu1173= | |
| XM_011515753.1:c.3186G>A | XP_011514055.1:p.Leu1062= | |
| XM_011515754.1:c.3186G>A | XP_011514056.1:p.Leu1062= | |
| NM_000492.4:c.3429G>A MANE Select | NP_000483.3:p.Leu1143= |