Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141972591G>C , CM000669.2:g.141972591G>C | GRCh38 |
| NC_000007.13:g.141672391G>C , CM000669.1:g.141672391G>C | GRCh37 |
| NC_000007.12:g.141318860G>C | NCBI36 |
| NG_016141.1:g.6183C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+26594G>C (MGAM) | ENSP00000419372.1:n.-3+26594G>C | |
| XM_011515783.1:c.*25-13805G>C (OR9A4) | XP_011514085.1:n.*25-13805G>C |