Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102798414C>T , CM000673.2:g.102798414C>T | GRCh38 |
| NC_000011.9:g.102669145C>T , CM000673.1:g.102669145C>T | GRCh37 |
| NC_000011.8:g.102174355C>T | NCBI36 |
| NG_011740.1:g.4822G>A | |
| NG_011740.2:g.4822G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371455.7:n.423+292C>T | ||
| ENST00000525739.6:n.682+292C>T | ||
| ENST00000544704.1:n.443+292C>T | ||
| NR_038390.1:n.682+292C>T |