Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172860G>A , CM000678.2:g.172860G>A | GRCh38 |
| NC_000016.9:g.222859G>A , CM000678.1:g.222859G>A | GRCh37 |
| NC_000016.8:g.162859G>A | NCBI36 |
| NG_000006.1:g.33723G>A | |
| NG_059186.1:g.1210G>A | |
| NG_059271.1:g.5014G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.10:c.-53G>A | ENSP00000251595.6:n.-53G>A | |
| NM_000517.4:c.-53G>A | NP_000508.1:n.-53G>A |