Linked Data
dbSNP Id:
rs1807320288
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66468972A>T , CM000670.2:g.66468972A>T | GRCh38 |
| NC_000008.10:g.67381207A>T , CM000670.1:g.67381207A>T | GRCh37 |
| NC_000008.9:g.67543761A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648156.1:c.*540-2458A>T | ENSP00000497007.1:n.*540-2458A>T | |
| ENST00000480040.5:n.396-2458A>T (ADHFE1) | ||
| ENST00000482608.6:n.250+8507A>T (VXN) | ||
| ENST00000519702.5:n.162+8507A>T (VXN) |