Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203857291C= , CM000664.2:g.203857291C= | GRCh38 |
| NC_000002.11:g.204722014C= , CM000664.1:g.204722014C= | GRCh37 |
| NC_000002.10:g.204430259C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696479.1:c.47+3215C= | ENSP00000512655.1:n.47+3215C= | |
| XR_923797.1:n.225-5182C= |