Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.29518574A>G , CM000683.2:g.29518574A>G | GRCh38 |
| NC_000021.8:g.30890894A>G , CM000683.1:g.30890894A>G | GRCh37 |
| NC_000021.7:g.29812765A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000422809.5:c.473-63738A>G | |
| ENST00000468059.1:c.326-78996A>G |