Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.148807263T>A , CM000669.2:g.148807263T>A | GRCh38 |
| NC_000007.13:g.148504355T>A , CM000669.1:g.148504355T>A | GRCh37 |
| NC_000007.12:g.148135288T>A | NCBI36 |
| NG_032043.1:g.82087A>T , LRG_531:g.82087A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683292.1:c.*1535A>T | ENSP00000507503.1:n.*1535A>T | |
| XR_928101.1:n.515+2178T>A | ||
| XR_928102.1:n.722+2178T>A |