Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31008306G>T , CM000668.2:g.31008306G>T | GRCh38 |
| NC_000006.11:g.30976083G>T , CM000668.1:g.30976083G>T | GRCh37 |
| NC_000006.10:g.31084062G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001198815.1:c.-38+2173G>T | NP_001185744.1:n.-38+2173G>T | |
| NM_001318484.1:c.7+2173G>T | NP_001305413.1:n.7+2173G>T |