Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88643277A>T , CM000678.2:g.88643277A>T | GRCh38 |
| NC_000016.9:g.88709685A>T , CM000678.1:g.88709685A>T | GRCh37 |
| NC_000016.8:g.87237186A>T | NCBI36 |
| NG_007291.1:g.12773T>A , LRG_52:g.12773T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696156.1:c.*76T>A | ENSP00000512446.1:n.*76T>A |