Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35657776T>G , CM000671.2:g.35657776T>G | GRCh38 |
| NC_000009.11:g.35657773T>G , CM000671.1:g.35657773T>G | GRCh37 |
| NC_000009.10:g.35647773T>G | NCBI36 |
| NG_017041.1:g.5243A>C , LRG_163:g.5243A>C | |
| NG_033120.1:g.4487T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003051.3:n.243A>C , LRG_163t1:n.243A>C |