Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783021C= , CM000664.2:g.47783021C= | GRCh38 |
| NC_000002.11:g.48010160C= , CM000664.1:g.48010160C= | GRCh37 |
| NC_000002.10:g.47863664C= | NCBI36 |
| NG_007111.1:g.4875C= , LRG_219:g.4875C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000652107.1:c.-37-7906C= | ENSP00000498629.1:n.-37-7906C= | |
| ENST00000606499.1:c.-37-7906C= | ENSP00000475605.1:n.-37-7906C= |