Linked Data
dbSNP Id:
rs1801085569
gnomAD v3:
8-2649303-A-T
gnomAD v4:
8-2649303-A-T
COSMIC:
COSN14880559
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.2649303A>T , CM000670.2:g.2649303A>T | GRCh38 |
| NC_000008.10:g.2506820A>T , CM000670.1:g.2506820A>T | GRCh37 |
| NC_000008.9:g.2494227A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_125425.1:n.238+25427T>A |