Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201287816C= , CM000664.2:g.201287816C= | GRCh38 |
| NC_000002.11:g.202152539C= , CM000664.1:g.202152539C= | GRCh37 |
| NC_000002.10:g.201860784C= | NCBI36 |
| NG_007497.1:g.59359C= , LRG_34:g.59359C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696069.1:c.1259+2499C= | ENSP00000512371.1:n.1259+2499C= |