Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47403019A>G , CM000664.2:g.47403019A>G | GRCh38 |
| NC_000002.11:g.47630158A>G , CM000664.1:g.47630158A>G | GRCh37 |
| NC_000002.10:g.47483662A>G | NCBI36 |
| NG_007110.2:g.4896A>G , LRG_218:g.4896A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233146.6:c.-173A>G | ENSP00000233146.2:n.-173A>G |