Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.94167390C>A , CM000671.2:g.94167390C>A | GRCh38 |
| NC_000009.11:g.96929672C>A , CM000671.1:g.96929672C>A | GRCh37 |
| NC_000009.10:g.95969493C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_170274.1:n.124+1009C>A | ||
| NR_170275.1:n.124+1009C>A | ||
| NR_170276.1:n.124+1009C>A | ||
| NR_170277.1:n.124+1009C>A | ||
| NR_170278.1:n.124+1009C>A |