Linked Data
ClinVar Variation Id:
762146
ClinVar RCV Id:
RCV000940259
dbSNP Id:
rs1584766681
gnomAD v4:
7-116526671-C-G
COSMIC:
COSM421631
MyVariant Identifiers:
chr7:g.116166725C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116526671C>G , CM000669.2:g.116526671C>G | GRCh38 |
| NC_000007.13:g.116166725C>G , CM000669.1:g.116166725C>G | GRCh37 |
| NC_000007.12:g.115953961C>G | NCBI36 |
| NG_012051.1:g.6887C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341049.7:c.177C>G MANE Select | ENSP00000339191.2:p.Leu59= | |
| ENST00000405348.6:c.84C>G | ENSP00000384348.1:p.Leu28= | |
| ENST00000614113.5:c.*7C>G | ENSP00000479447.2:n.*7C>G | |
| ENST00000341049.6:c.177C>G | ENSP00000339191.2:p.Leu59= | |
| ENST00000393467.1:c.84C>G | ENSP00000377110.1:p.Leu28= | |
| ENST00000393468.1:c.84C>G | ENSP00000377111.1:p.Leu28= | |
| ENST00000393470.1:c.144C>G | ENSP00000377113.1:p.Leu48= | |
| ENST00000405348.5:c.84C>G | ENSP00000384348.1:p.Leu28= | |
| ENST00000451122.5:c.*629C>G | ENSP00000409541.1:n.*629C>G | |
| ENST00000456473.5:c.84C>G | ENSP00000389033.1:p.Leu28= | |
| ENST00000489856.1:n.228C>G | ||
| ENST00000614113.4:c.84C>G | ENSP00000479447.1:p.Leu28= | |
| NM_001172895.1:c.84C>G | NP_001166366.1:p.Leu28= | |
| NM_001172896.1:c.84C>G | NP_001166367.1:p.Leu28= | |
| NM_001172897.1:c.84C>G | NP_001166368.1:p.Leu28= | |
| NM_001753.4:c.177C>G | NP_001744.2:p.Leu59= | |
| NM_001753.5:c.177C>G MANE Select | NP_001744.2:p.Leu59= | |
| NM_001172896.2:c.84C>G | NP_001166367.1:p.Leu28= | |
| NM_001172897.2:c.84C>G | NP_001166368.1:p.Leu28= |