Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203866178T>G , CM000664.2:g.203866178T>G | GRCh38 |
| NC_000002.11:g.204730901T>G , CM000664.1:g.204730901T>G | GRCh37 |
| NC_000002.10:g.204439146T>G | NCBI36 |
| NG_011502.1:g.3393T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696479.1:c.48-1740T>G | ENSP00000512655.1:n.48-1740T>G |