Canonical Allele Identifier:
CA1250988214
Gene:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.53010182G>T , CM000664.2:g.53010182G>T | GRCh38 |
| NC_000002.11:g.53237320G>T , CM000664.1:g.53237320G>T | GRCh37 |
| NC_000002.10:g.53090824G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XR_002959384.1:n.124-100158C>A |