Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47783075C>T , CM000664.2:g.47783075C>T | GRCh38 |
| NC_000002.11:g.48010214C>T , CM000664.1:g.48010214C>T | GRCh37 |
| NC_000002.10:g.47863718C>T | NCBI36 |
| NG_007111.1:g.4929C>T , LRG_219:g.4929C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000606499.1:c.-37-7852C>T | ENSP00000475605.1:n.-37-7852C>T |
| ENST00000652107.1:c.-37-7852C>T | ENSP00000498629.1:n.-37-7852C>T |