Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.27643996T>A , CM000673.2:g.27643996T>A | GRCh38 |
| NC_000011.9:g.27665543T>A , CM000673.1:g.27665543T>A | GRCh37 |
| NC_000011.8:g.27622119T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NR_002832.2:n.374+3991T>A | ||
| NR_033312.1:n.305+3991T>A | ||
| NR_033313.1:n.305+3991T>A | ||
| NR_033314.1:n.374+3991T>A | ||
| NR_033315.1:n.305+3991T>A |