Canonical Allele Identifier:
CA2210030190
Community Standard Title: NC_000016.10:g.15947911G>T
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15947911G>T , CM000678.2:g.15947911G>T | GRCh38 |
| NC_000016.9:g.16041768G>T , CM000678.1:g.16041768G>T | GRCh37 |
| NC_000016.8:g.15949269G>T | NCBI36 |
| NG_028268.1:g.3335G>T | |
| NG_028268.2:g.3335G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001752339.1:n.594+880C>A |