Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.103562952G>T , CM000676.2:g.103562952G>T | GRCh38 |
| NC_000014.8:g.104029289G>T , CM000676.1:g.104029289G>T | GRCh37 |
| NC_000014.7:g.103099042G>T | NCBI36 |
| NG_041786.1:g.4996G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000557172.5:c.-2+968G>T | ENSP00000450786.1:n.-2+968G>T |