Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657872C>A , CM000671.2:g.35657872C>A | GRCh38 |
| NC_000009.11:g.35657869C>A , CM000671.1:g.35657869C>A | GRCh37 |
| NC_000009.10:g.35647869C>A | NCBI36 |
| NG_017041.1:g.5147G>T , LRG_163:g.5147G>T | |
| NG_033120.1:g.4583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_003051.3:n.147G>T , LRG_163t1:n.147G>T |