Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798678T>A , CM000673.2:g.102798678T>A | GRCh38 |
| NC_000011.9:g.102669409T>A , CM000673.1:g.102669409T>A | GRCh37 |
| NC_000011.8:g.102174619T>A | NCBI36 |
| NG_011740.1:g.4558A>T | |
| NG_011740.2:g.4558A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_038390.1:n.682+556T>A | |
| ENST00000371455.7:n.423+556T>A | |
| ENST00000525739.6:n.682+556T>A | |
| ENST00000544704.1:n.443+556T>A |