Canonical Allele Identifier:
CA2469660188
Community Standard Title: NC_000024.10:g.2789135C=
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2789135C= , CM000686.2:g.2789135C= | GRCh38 |
| NC_000024.9:g.2657176C= , CM000686.1:g.2657176C= | GRCh37 |
| NC_000024.8:g.2717176C= | NCBI36 |
| NG_011751.1:g.3617G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679518.1:n.106+14396C= | |
| ENST00000680285.1:n.320-614C= | |
| ENST00000681787.1:n.106+14396C= | |
| ENST00000681940.1:n.106+14396C= |