Canonical Allele Identifier:
CA2493232098
Gene:
Linked Data
dbSNP Id:
rs1691636346
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20485721G>A , CM000664.2:g.20485721G>A | GRCh38 |
| NC_000002.11:g.20685482G>A , CM000664.1:g.20685482G>A | GRCh37 |
| NC_000002.10:g.20548963G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_157978.1:n.530+3017C>T |