Canonical Allele Identifier:
CA2136398893
Gene:
Linked Data
dbSNP Id:
rs1595986788
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50856951A>C , CM000676.2:g.50856951A>C | GRCh38 |
| NC_000014.8:g.51323669A>C , CM000676.1:g.51323669A>C | GRCh37 |
| NC_000014.7:g.50393419A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_943848.1:n.282+1147T>G | ||
| XR_943848.2:n.643+1147T>G |