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