Canonical Allele Identifier:
CA16298867
Community Standard Title: NC_000007.14:g.45942861T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45942861T>C , CM000669.2:g.45942861T>C | GRCh38 |
| NC_000007.13:g.45982460T>C , CM000669.1:g.45982460T>C | GRCh37 |
| NC_000007.12:g.45948985T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| XR_001745202.1:n.326+1981T>C | |
| XR_001745203.1:n.326+1981T>C | |
| XR_927237.1:n.321+1981T>C | |
| XR_927238.1:n.321+1981T>C | |
| XR_927239.1:n.321+1981T>C | |
| XR_927240.1:n.321+1981T>C |