Canonical Allele Identifier:
CA107748374
Community Standard Title: NC_000004.12:g.144559188T>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.144559188T>C , CM000666.2:g.144559188T>C | GRCh38 |
| NC_000004.11:g.145480340T>C , CM000666.1:g.145480340T>C | GRCh37 |
| NC_000004.10:g.145699790T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000649263.1:c.328-143210A>G | ENSP00000497507.1:n.328-143210A>G |
| XR_939272.1:n.178+2796A>G | |
| XR_939272.2:n.522+2796A>G | |
| XR_939273.1:n.178+2796A>G | |
| XR_939273.2:n.522+2796A>G |