Linked Data
ClinVar Variation Id:
2517014
ClinVar RCV Id:
RCV004289746
dbSNP Id:
rs142321204
ExAC:
7:141672841 T / G
gnomAD v2:
7-141672841-T-G
gnomAD v3:
7-141973041-T-G
gnomAD v4:
7-141973041-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973041T>G , CM000669.2:g.141973041T>G | GRCh38 |
| NC_000007.13:g.141672841T>G , CM000669.1:g.141672841T>G | GRCh37 |
| NC_000007.12:g.141319310T>G | NCBI36 |
| NG_016141.1:g.5733A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27044T>G (MGAM) | ENSP00000419372.1:n.-3+27044T>G | |
| ENST00000547270.1:c.649A>C (TAS2R38) MANE Select | ENSP00000448219.1:p.Thr217Pro | |
| NM_176817.4:c.649A>C (TAS2R38) | NP_789787.4:p.Thr217Pro | |
| XM_011515783.1:c.*25-13355T>G (OR9A4) | XP_011514085.1:n.*25-13355T>G | |
| NM_176817.5:c.649A>C (TAS2R38) MANE Select | NP_789787.5:p.Thr217Pro |