Canonical Allele Identifier:
CA2712876687
Gene:
Linked Data
dbSNP Id:
rs2114294227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117450183G>T , CM000668.2:g.117450183G>T | GRCh38 |
| NC_000006.11:g.117771346G>T , CM000668.1:g.117771346G>T | GRCh37 |
| NC_000006.10:g.117878039G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467125.1:c.547+116671C>A | ENSP00000487717.1:n.547+116671C>A |