Canonical Allele Identifier:
CA337623251
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8606148C>A , CM000686.2:g.8606148C>A | GRCh38 |
| NC_000024.9:g.8474189C>A , CM000686.1:g.8474189C>A | GRCh37 |
| NC_000024.8:g.8534189C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000624507.1:c.53-1117G>T | ENSP00000485522.1:n.53-1117G>T | |
| ENST00000624593.1:c.92+16704G>T | ENSP00000485106.1:n.92+16704G>T |