Linked Data
ClinVar Variation Id:
324296
ClinVar RCV Id:
RCV000309289
dbSNP Id:
rs74859843
gnomAD v2:
17-59757207-A-G
gnomAD v3:
17-61679846-A-G
gnomAD v4:
17-61679846-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61679846A>G , CM000679.2:g.61679846A>G | GRCh38 |
| NC_000017.10:g.59757207A>G , CM000679.1:g.59757207A>G | GRCh37 |
| NC_000017.9:g.57111989A>G | NCBI36 |
| NG_007409.2:g.188714T>C , LRG_300:g.188714T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*3450T>C | ENSP00000507660.1:n.*3450T>C | |
| ENST00000259008.7:c.*3450T>C MANE Select | ENSP00000259008.2:n.*3450T>C | |
| NM_032043.2:c.*3450T>C , LRG_300t1:c.*3450T>C | NP_114432.2:n.*3450T>C | |
| NM_032043.3:c.*3450T>C MANE Select | NP_114432.2:n.*3450T>C |