Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.27610659A>G , CM000671.2:g.27610659A>G | GRCh38 |
| NC_000009.11:g.27610657A>G , CM000671.1:g.27610657A>G | GRCh37 |
| NC_000009.10:g.27600657A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400348.3:n.87T>C |