Canonical Allele Identifier:
CA1247519137
Gene:
Linked Data
dbSNP Id:
rs748128209
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.41534674G>T , CM000664.2:g.41534674G>T | GRCh38 |
| NC_000002.11:g.41761814G>T , CM000664.1:g.41761814G>T | GRCh37 |
| NC_000002.10:g.41615318G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_939996.1:n.181+3052C>A | ||
| XR_939997.1:n.146+3052C>A | ||
| XR_939997.2:n.9529+3052C>A |