Canonical Allele Identifier:
CA571911517
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.166969587G>T , CM000668.2:g.166969587G>T | GRCh38 |
| NC_000006.11:g.167383075G>T , CM000668.1:g.167383075G>T | GRCh37 |
| NC_000006.10:g.167303065G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_943243.1:n.802+39C>A | ||
| XR_943244.1:n.3666+39C>A | ||
| XR_943245.1:n.3324+39C>A | ||
| XR_943246.1:n.398+39C>A | ||
| XR_943248.1:n.3262+39C>A | ||
| XR_943243.2:n.2885+39C>A | ||
| XR_943244.2:n.3666+39C>A | ||
| XR_943245.2:n.3327+39C>A |