Linked Data
ClinVar Variation Id:
849282
dbSNP Id:
rs772157232
ExAC:
7:117304859 C / G
gnomAD v2:
7-117304859-C-G
gnomAD v4:
7-117664805-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117664805C>G , CM000669.2:g.117664805C>G | GRCh38 |
| NC_000007.13:g.117304859C>G , CM000669.1:g.117304859C>G | GRCh37 |
| NC_000007.12:g.117092095C>G | NCBI36 |
| NG_016465.4:g.204022C>G , LRG_663:g.204022C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*290C>G | ENSP00000497673.2:n.*290C>G | |
| ENST00000647978.2:c.*3795C>G | ENSP00000497658.1:n.*3795C>G | |
| ENST00000649781.2:c.3898C>G | ENSP00000497203.1:p.Leu1300Val | |
| ENST00000685018.2:c.*294C>G | ENSP00000510194.2:n.*294C>G | |
| ENST00000687278.2:c.*734C>G | ENSP00000509593.2:n.*734C>G | |
| ENST00000699585.1:c.*290C>G | ENSP00000514456.1:n.*290C>G | |
| ENST00000699598.1:c.4081C>G | ENSP00000514467.1:p.Leu1361Val | |
| ENST00000699599.1:c.*294C>G | ENSP00000514468.1:n.*294C>G | |
| ENST00000699600.1:c.*742C>G | ENSP00000514469.1:n.*742C>G | |
| ENST00000699601.1:c.*2456C>G | ENSP00000514470.1:n.*2456C>G | |
| ENST00000699602.1:c.4075C>G | ENSP00000514471.1:p.Leu1359Val | |
| ENST00000699604.1:c.*3905C>G | ENSP00000514472.1:n.*3905C>G | |
| ENST00000699605.1:c.3655C>G | ENSP00000514473.1:p.Leu1219Val | |
| ENST00000699606.1:n.2249C>G | ||
| ENST00000685018.1:c.945C>G | ENSP00000510194.1:n.945C>G | |
| ENST00000687278.1:c.1868C>G | ENSP00000509593.1:n.1868C>G | |
| ENST00000689011.1:c.663C>G | ||
| ENST00000003084.11:c.4081C>G MANE Select | ENSP00000003084.6:p.Leu1361Val | |
| ENST00000647720.1:c.1531C>G | ||
| ENST00000649781.1:c.3898C>G | ENSP00000497203.1:p.Leu1300Val | |
| ENST00000003084.10:c.4081C>G | ENSP00000003084.6:p.Leu1361Val | |
| ENST00000426809.5:c.3991C>G | ENSP00000389119.1:p.Leu1331Val | |
| ENST00000600166.1:c.207C>G | ||
| NM_000492.3:c.4081C>G , LRG_663t1:c.4081C>G | NP_000483.3:p.Leu1361Val | |
| XM_011515751.1:c.4171C>G | XP_011514053.1:p.Leu1391Val | |
| XM_011515752.1:c.4171C>G | XP_011514054.1:p.Leu1391Val | |
| XM_011515753.1:c.3838C>G | XP_011514055.1:p.Leu1280Val | |
| XM_011515754.1:c.3838C>G | XP_011514056.1:p.Leu1280Val | |
| NM_000492.4:c.4081C>G MANE Select | NP_000483.3:p.Leu1361Val |