Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203856933A>T , CM000664.2:g.203856933A>T | GRCh38 |
| NC_000002.11:g.204721656A>T , CM000664.1:g.204721656A>T | GRCh37 |
| NC_000002.10:g.204429901A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696479.1:c.47+2857A>T | ENSP00000512655.1:n.47+2857A>T | |
| XR_923797.1:n.225-5540A>T |