Linked Data
ClinVar Variation Id:
324318
ClinVar RCV Id:
RCV000398454
dbSNP Id:
rs150080122
gnomAD v2:
17-59758119-C-T
gnomAD v3:
17-61680758-C-T
gnomAD v4:
17-61680758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61680758C>T , CM000679.2:g.61680758C>T | GRCh38 |
| NC_000017.10:g.59758119C>T , CM000679.1:g.59758119C>T | GRCh37 |
| NC_000017.9:g.57112901C>T | NCBI36 |
| NG_007409.2:g.187802G>A , LRG_300:g.187802G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682755.1:c.*2538G>A | ENSP00000507660.1:n.*2538G>A | |
| ENST00000259008.7:c.*2538G>A MANE Select | ENSP00000259008.2:n.*2538G>A | |
| NM_032043.2:c.*2538G>A , LRG_300t1:c.*2538G>A | NP_114432.2:n.*2538G>A | |
| NM_032043.3:c.*2538G>A MANE Select | NP_114432.2:n.*2538G>A |