Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657788G>A , CM000671.2:g.35657788G>A | GRCh38 |
| NC_000009.11:g.35657785G>A , CM000671.1:g.35657785G>A | GRCh37 |
| NC_000009.10:g.35647785G>A | NCBI36 |
| NG_017041.1:g.5231C>T , LRG_163:g.5231C>T | |
| NG_033120.1:g.4499G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003051.3:n.231C>T , LRG_163t1:n.231C>T |