Canonical Allele Identifier:
CA2837567510
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2789287A>G , CM000686.2:g.2789287A>G | GRCh38 |
| NC_000024.9:g.2657328A>G , CM000686.1:g.2657328A>G | GRCh37 |
| NC_000024.8:g.2717328A>G | NCBI36 |
| NG_011751.1:g.3465T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000679518.1:n.106+14548A>G | ||
| ENST00000680285.1:n.320-462A>G | ||
| ENST00000681787.1:n.106+14548A>G | ||
| ENST00000681940.1:n.106+14548A>G |