Linked Data
ClinVar Variation Id:
324313
ClinVar RCV Id:
RCV000271086
dbSNP Id:
rs886053203
gnomAD v3:
17-61680581-G-A
gnomAD v4:
17-61680581-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61680581G>A , CM000679.2:g.61680581G>A | GRCh38 |
| NC_000017.10:g.59757942G>A , CM000679.1:g.59757942G>A | GRCh37 |
| NC_000017.9:g.57112724G>A | NCBI36 |
| NG_007409.2:g.187979C>T , LRG_300:g.187979C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*2715C>T | ENSP00000507660.1:n.*2715C>T | |
| ENST00000259008.7:c.*2715C>T MANE Select | ENSP00000259008.2:n.*2715C>T | |
| NM_032043.2:c.*2715C>T , LRG_300t1:c.*2715C>T | NP_114432.2:n.*2715C>T | |
| NM_032043.3:c.*2715C>T MANE Select | NP_114432.2:n.*2715C>T |