Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973171C= , CM000669.2:g.141973171C= | GRCh38 |
| NC_000007.13:g.141672971C= , CM000669.1:g.141672971C= | GRCh37 |
| NC_000007.12:g.141319440C= | NCBI36 |
| NG_016141.1:g.5603G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27174C= (MGAM) | ENSP00000419372.1:n.-3+27174C= | |
| ENST00000547270.1:c.519G= (TAS2R38) MANE Select | ENSP00000448219.1:p.Val173= | |
| NM_176817.4:c.519G= (TAS2R38) | NP_789787.4:p.Val173= | |
| XM_011515783.1:c.*25-13225C= (OR9A4) | XP_011514085.1:n.*25-13225C= | |
| NM_176817.5:c.519G= (TAS2R38) MANE Select | NP_789787.5:p.Val173= |