Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87993491C>A , CM000676.2:g.87993491C>A | GRCh38 |
| NC_000014.8:g.88459835C>A , CM000676.1:g.88459835C>A | GRCh37 |
| NC_000014.7:g.87529588C>A | NCBI36 |
| NG_011853.2:g.5073G>T | |
| NG_011853.3:g.5073G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001201402.1:c.9G>T | NP_001188331.1:p.Gly3= |
| NM_001201402.2:c.9G>T | NP_001188331.1:p.Gly3= |
| ENST00000393569.6:c.9G>T | ENSP00000377199.2:p.Gly3= |