Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.70935643C>T , CM000664.2:g.70935643C>T | GRCh38 |
| NC_000002.11:g.71162773C>T , CM000664.1:g.71162773C>T | GRCh37 |
| NC_000002.10:g.71016281C>T | NCBI36 |
| NG_008016.1:g.4776C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000432367.6:c.323-8015C>T | |
| ENST00000646783.1:c.80-3775C>T |