Canonical Allele Identifier:
CA2718230564
Gene:
Linked Data
dbSNP Id:
rs2130189248
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127012502G>A , CM000670.2:g.127012502G>A | GRCh38 |
| NC_000008.10:g.128024747G>A , CM000670.1:g.128024747G>A | GRCh37 |
| NC_000008.9:g.128093929G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001746076.2:n.1364+5884G>A |