Canonical Allele Identifier:
CA2122202218
Gene:
Linked Data
dbSNP Id:
rs1879067888
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.20793494A>G , CM000676.2:g.20793494A>G | GRCh38 |
| NC_000014.8:g.21261653A>G , CM000676.1:g.21261653A>G | GRCh37 |
| NC_000014.7:g.20331493A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943584.1:n.585+708A>G | ||
| XR_943585.1:n.585+708A>G | ||
| XR_001750620.1:n.3271+708A>G | ||
| XR_001750621.1:n.3271+708A>G | ||
| XR_001750622.1:n.637+6410T>C | ||
| XR_001750623.1:n.637+6410T>C | ||
| XR_001750624.1:n.637+6410T>C |