Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657871G>C , CM000671.2:g.35657871G>C | GRCh38 |
| NC_000009.11:g.35657868G>C , CM000671.1:g.35657868G>C | GRCh37 |
| NC_000009.10:g.35647868G>C | NCBI36 |
| NG_017041.1:g.5148C>G , LRG_163:g.5148C>G | |
| NG_033120.1:g.4582G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003051.3:n.148C>G , LRG_163t1:n.148C>G |