Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66848390A>T , CM000673.2:g.66848390A>T | GRCh38 |
| NC_000011.9:g.66615861A>T , CM000673.1:g.66615861A>T | GRCh37 |
| NC_000011.8:g.66372437A>T | NCBI36 |
| NG_008319.1:g.114987T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000529047.5:c.*509T>A | ENSP00000435905.1:n.*509T>A |