Linked Data
ClinVar Variation Id:
3174081
ClinVar RCV Id:
RCV004471445
dbSNP Id:
rs782034667
ExAC:
7:141673036 A / C
gnomAD v2:
7-141673036-A-C
gnomAD v3:
7-141973236-A-C
gnomAD v4:
7-141973236-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973236A>C , CM000669.2:g.141973236A>C | GRCh38 |
| NC_000007.13:g.141673036A>C , CM000669.1:g.141673036A>C | GRCh37 |
| NC_000007.12:g.141319505A>C | NCBI36 |
| NG_016141.1:g.5538T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27239A>C (MGAM) | ENSP00000419372.1:n.-3+27239A>C | |
| ENST00000547270.1:c.454T>G (TAS2R38) MANE Select | ENSP00000448219.1:p.Cys152Gly | |
| NM_176817.4:c.454T>G (TAS2R38) | NP_789787.4:p.Cys152Gly | |
| XM_011515783.1:c.*25-13160A>C (OR9A4) | XP_011514085.1:n.*25-13160A>C | |
| NM_176817.5:c.454T>G (TAS2R38) MANE Select | NP_789787.5:p.Cys152Gly |