Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233250231C= , CM000664.2:g.233250231C= | GRCh38 |
| NC_000002.11:g.234158877C= , CM000664.1:g.234158877C= | GRCh37 |
| NC_000002.10:g.233823616C= | NCBI36 |
| NG_023038.1:g.3661C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431917.5:c.-137-5871C= | ENSP00000397512.1:n.-137-5871C= |