Linked Data
ClinVar Variation Id:
1354829
ClinVar RCV Id:
RCV001866614
dbSNP Id:
rs2115932080
gnomAD v4:
7-116526683-G-A
MyVariant Identifiers:
chr7:g.116166737G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.116526683G>A , CM000669.2:g.116526683G>A | GRCh38 |
| NC_000007.13:g.116166737G>A , CM000669.1:g.116166737G>A | GRCh37 |
| NC_000007.12:g.115953973G>A | NCBI36 |
| NG_012051.1:g.6899G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341049.7:c.189G>A MANE Select | ENSP00000339191.2:p.Val63= | |
| ENST00000405348.6:c.96G>A | ENSP00000384348.1:p.Val32= | |
| ENST00000614113.5:c.*19G>A | ENSP00000479447.2:n.*19G>A | |
| ENST00000341049.6:c.189G>A | ENSP00000339191.2:p.Val63= | |
| ENST00000393467.1:c.96G>A | ENSP00000377110.1:p.Val32= | |
| ENST00000393468.1:c.96G>A | ENSP00000377111.1:p.Val32= | |
| ENST00000393470.1:c.156G>A | ENSP00000377113.1:p.Val52= | |
| ENST00000405348.5:c.96G>A | ENSP00000384348.1:p.Val32= | |
| ENST00000451122.5:c.*641G>A | ENSP00000409541.1:n.*641G>A | |
| ENST00000456473.5:c.96G>A | ENSP00000389033.1:p.Val32= | |
| ENST00000489856.1:n.240G>A | ||
| ENST00000614113.4:c.96G>A | ENSP00000479447.1:p.Val32= | |
| NM_001172895.1:c.96G>A | NP_001166366.1:p.Val32= | |
| NM_001172896.1:c.96G>A | NP_001166367.1:p.Val32= | |
| NM_001172897.1:c.96G>A | NP_001166368.1:p.Val32= | |
| NM_001753.4:c.189G>A | NP_001744.2:p.Val63= | |
| NM_001753.5:c.189G>A MANE Select | NP_001744.2:p.Val63= | |
| NM_001172896.2:c.96G>A | NP_001166367.1:p.Val32= | |
| NM_001172897.2:c.96G>A | NP_001166368.1:p.Val32= |