Canonical Allele Identifier:
CA2712876684
Gene:
Linked Data
dbSNP Id:
rs2114294213
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117450167T>G , CM000668.2:g.117450167T>G | GRCh38 |
| NC_000006.11:g.117771330T>G , CM000668.1:g.117771330T>G | GRCh37 |
| NC_000006.10:g.117878023T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000467125.1:c.547+116687A>C | ENSP00000487717.1:n.547+116687A>C |