Linked Data
dbSNP Id:
rs782178369
ExAC:
7:141673390 C / G
gnomAD v2:
7-141673390-C-G
gnomAD v4:
7-141973590-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973590C>G , CM000669.2:g.141973590C>G | GRCh38 |
| NC_000007.13:g.141673390C>G , CM000669.1:g.141673390C>G | GRCh37 |
| NC_000007.12:g.141319859C>G | NCBI36 |
| NG_016141.1:g.5184G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27593C>G (MGAM) | ENSP00000419372.1:n.-3+27593C>G | |
| ENST00000547270.1:c.100G>C (TAS2R38) MANE Select | ENSP00000448219.1:p.Ala34Pro | |
| NM_176817.4:c.100G>C (TAS2R38) | NP_789787.4:p.Ala34Pro | |
| XM_011515783.1:c.*25-12806C>G (OR9A4) | XP_011514085.1:n.*25-12806C>G | |
| NM_176817.5:c.100G>C (TAS2R38) MANE Select | NP_789787.5:p.Ala34Pro |