Canonical Allele Identifier:
CA2749087034
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20485665C>T , CM000664.2:g.20485665C>T | GRCh38 |
| NC_000002.11:g.20685426C>T , CM000664.1:g.20685426C>T | GRCh37 |
| NC_000002.10:g.20548907C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_157978.1:n.530+3073G>A |