Linked Data
ClinVar Variation Id:
358314
dbSNP Id:
rs201351580
ExAC:
7:100779015 C / T
gnomAD v2:
7-100779015-C-T
gnomAD v3:
7-101135734-C-T
gnomAD v4:
7-101135734-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.101135734C>T , CM000669.2:g.101135734C>T | GRCh38 |
| NC_000007.13:g.100779015C>T , CM000669.1:g.100779015C>T | GRCh37 |
| NC_000007.12:g.100565735C>T | NCBI36 |
| NG_013213.1:g.13637C>T , LRG_597:g.13637C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223095.5:c.1020C>T MANE Select | ENSP00000223095.4:p.Val340= | |
| ENST00000223095.4:c.1020C>T | ENSP00000223095.4:p.Val340= | |
| NM_000602.4:c.1020C>T , LRG_597t1:c.1020C>T | NP_000593.1:p.Val340= | |
| NM_000602.5:c.1020C>T MANE Select | NP_000593.1:p.Val340= | |
| NM_001386456.1:c.768C>T | NP_001373385.1:p.Val256= | |
| NM_001386457.1:c.1000+140C>T | NP_001373386.1:n.1000+140C>T | |
| NM_001386458.1:c.1020C>T | NP_001373387.1:p.Val340= | |
| NM_001386459.1:c.1020C>T | NP_001373388.1:p.Val340= | |
| NM_001386460.1:c.1020C>T | NP_001373389.1:p.Val340= | |
| NM_001386461.1:c.1020C>T | NP_001373390.1:p.Val340= | |
| NM_001386462.1:c.819C>T | NP_001373391.1:p.Val273= | |
| NM_001386463.1:c.1014C>T | NP_001373392.1:p.Val338= | |
| NM_001386464.1:c.1020C>T | NP_001373393.1:p.Val340= | |
| NM_001386465.1:c.1020C>T | NP_001373394.1:p.Val340= | |
| NM_001386466.1:c.1044C>T | NP_001373395.1:p.Val348= |