Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857203T>A , CM000664.2:g.203857203T>A | GRCh38 |
| NC_000002.11:g.204721926T>A , CM000664.1:g.204721926T>A | GRCh37 |
| NC_000002.10:g.204430171T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3127T>A | ENSP00000512655.1:n.47+3127T>A | |
| XR_923797.1:n.225-5270T>A |