Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.7278096C>T , CM000668.2:g.7278096C>T | GRCh38 |
| NC_000006.11:g.7278329C>T , CM000668.1:g.7278329C>T | GRCh37 |
| NC_000006.10:g.7223328C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000474597.5:c.873-8942G>A | ENSP00000418617.1:n.873-8942G>A |
| ENST00000475213.1:n.230-8942G>A | |
| ENST00000650389.1:c.*52-8942G>A | ENSP00000497016.1:n.*52-8942G>A |