Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201287795T= , CM000664.2:g.201287795T= | GRCh38 |
| NC_000002.11:g.202152518T= , CM000664.1:g.202152518T= | GRCh37 |
| NC_000002.10:g.201860763T= | NCBI36 |
| NG_007497.1:g.59338T= , LRG_34:g.59338T= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696069.1:c.1259+2478T= | ENSP00000512371.1:n.1259+2478T= |