Canonical Allele Identifier:
CA2014002161
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6276561C>G , CM000674.2:g.6276561C>G | GRCh38 |
| NC_000012.11:g.6385727C>G , CM000674.1:g.6385727C>G | GRCh37 |
| NC_000012.10:g.6255988C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_001748976.1:n.157+16538G>C | ||
| XR_001748977.1:n.157+16538G>C | ||
| XR_001748978.1:n.157+16538G>C | ||
| XR_001748979.1:n.157+16538G>C | ||
| XR_001748980.1:n.157+16538G>C |