Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152676167C>T , CM000669.2:g.152676167C>T | GRCh38 |
| NC_000007.13:g.152373252C>T , CM000669.1:g.152373252C>T | GRCh37 |
| NC_000007.12:g.152004185C>T | NCBI36 |
| NG_027988.1:g.4999G>A | |
| NG_027988.2:g.4999G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000698506.1:c.-174G>A | ENSP00000513758.1:n.-174G>A |