Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657807G>C , CM000671.2:g.35657807G>C | GRCh38 |
| NC_000009.11:g.35657804G>C , CM000671.1:g.35657804G>C | GRCh37 |
| NC_000009.10:g.35647804G>C | NCBI36 |
| NG_017041.1:g.5212C>G , LRG_163:g.5212C>G | |
| NG_033120.1:g.4518G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003051.3:n.212C>G , LRG_163t1:n.212C>G |