Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857145A>C , CM000664.2:g.203857145A>C | GRCh38 |
| NC_000002.11:g.204721868A>C , CM000664.1:g.204721868A>C | GRCh37 |
| NC_000002.10:g.204430113A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3069A>C | ENSP00000512655.1:n.47+3069A>C | |
| XR_923797.1:n.225-5328A>C |