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