Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66469033G>C , CM000670.2:g.66469033G>C | GRCh38 |
| NC_000008.10:g.67381268G>C , CM000670.1:g.67381268G>C | GRCh37 |
| NC_000008.9:g.67543822G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000648156.1:c.*540-2397G>C | ENSP00000497007.1:n.*540-2397G>C | |
| ENST00000480040.5:n.396-2397G>C (ADHFE1) | ||
| ENST00000482608.6:n.250+8568G>C (VXN) | ||
| ENST00000519702.5:n.162+8568G>C (VXN) |