Canonical Allele Identifier:
CA337437913
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2789135C>T , CM000686.2:g.2789135C>T | GRCh38 |
| NC_000024.9:g.2657176C>T , CM000686.1:g.2657176C>T | GRCh37 |
| NC_000024.8:g.2717176C>T | NCBI36 |
| NG_011751.1:g.3617G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000679518.1:n.106+14396C>T | ||
| ENST00000680285.1:n.320-614C>T | ||
| ENST00000681787.1:n.106+14396C>T | ||
| ENST00000681940.1:n.106+14396C>T |