Canonical Allele Identifier:
CA1844768952
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32755030C>G , CM000671.2:g.32755030C>G | GRCh38 |
| NC_000009.11:g.32755028C>G , CM000671.1:g.32755028C>G | GRCh37 |
| NC_000009.10:g.32745028C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_929554.1:n.529+9119C>G | ||
| XR_929555.1:n.529+9119C>G | ||
| XR_929556.1:n.547+6028G>C | ||
| XR_929557.1:n.388+6028G>C | ||
| XR_929558.1:n.386+6028G>C | ||
| XR_929559.1:n.547+6028G>C | ||
| XR_929560.1:n.547+6028G>C | ||
| XR_929554.2:n.529+9119C>G | ||
| XR_929555.2:n.529+9119C>G | ||
| XR_929556.2:n.547+6028G>C | ||
| XR_929557.2:n.409+6028G>C | ||
| XR_929558.2:n.449+6028G>C | ||
| XR_929559.2:n.547+6028G>C |