Linked Data
ClinVar Variation Id:
3174082
ClinVar RCV Id:
RCV004471446
dbSNP Id:
rs1554444392
gnomAD v2:
7-141673021-G-A
gnomAD v4:
7-141973221-G-A
COSMIC:
COSM5872020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141973221G>A , CM000669.2:g.141973221G>A | GRCh38 |
| NC_000007.13:g.141673021G>A , CM000669.1:g.141673021G>A | GRCh37 |
| NC_000007.12:g.141319490G>A | NCBI36 |
| NG_016141.1:g.5553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+27224G>A (MGAM) | ENSP00000419372.1:n.-3+27224G>A | |
| ENST00000547270.1:c.469C>T (TAS2R38) MANE Select | ENSP00000448219.1:p.Leu157Phe | |
| NM_176817.4:c.469C>T (TAS2R38) | NP_789787.4:p.Leu157Phe | |
| XM_011515783.1:c.*25-13175G>A (OR9A4) | XP_011514085.1:n.*25-13175G>A | |
| NM_176817.5:c.469C>T (TAS2R38) MANE Select | NP_789787.5:p.Leu157Phe |