Canonical Allele Identifier:
CA2506859324
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.8606024G>T , CM000686.2:g.8606024G>T | GRCh38 |
| NC_000024.9:g.8474065G>T , CM000686.1:g.8474065G>T | GRCh37 |
| NC_000024.8:g.8534065G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000624507.1:c.53-993C>A | ENSP00000485522.1:n.53-993C>A | |
| ENST00000624593.1:c.92+16828C>A | ENSP00000485106.1:n.92+16828C>A |