Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973546C>G , CM000669.2:g.141973546C>G | GRCh38 |
| NC_000007.13:g.141673346C>G , CM000669.1:g.141673346C>G | GRCh37 |
| NC_000007.12:g.141319815C>G | NCBI36 |
| NG_016141.1:g.5228G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000465654.5:c.-3+27549C>G (MGAM) | ENSP00000419372.1:n.-3+27549C>G | |
| ENST00000547270.1:c.144G>C (TAS2R38) MANE Select | ENSP00000448219.1:p.Gln48His | |
| NM_176817.4:c.144G>C (TAS2R38) | NP_789787.4:p.Gln48His | |
| XM_011515783.1:c.*25-12850C>G (OR9A4) | XP_011514085.1:n.*25-12850C>G | |
| NM_176817.5:c.144G>C (TAS2R38) MANE Select | NP_789787.5:p.Gln48His |