Canonical Allele Identifier:
CA2557247146
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.195007015G>T , CM000664.2:g.195007015G>T | GRCh38 |
| NC_000002.11:g.195871739G>T , CM000664.1:g.195871739G>T | GRCh37 |
| NC_000002.10:g.195579984G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_001739836.1:n.553+52420C>A |