Canonical Allele Identifier:
CA337437960
Community Standard Title: NC_000024.10:g.2791306A>C
Gene:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2791306A>C , CM000686.2:g.2791306A>C | GRCh38 |
| NC_000024.9:g.2659347A>C , CM000686.1:g.2659347A>C | GRCh37 |
| NC_000024.8:g.2719347A>C | NCBI36 |
| NG_011751.1:g.1446T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000679518.1:n.106+16567A>C | |
| ENST00000681787.1:n.106+16567A>C | |
| ENST00000681940.1:n.106+16567A>C |