Linked Data
dbSNP Id:
rs1554444358
gnomAD v2:
7-141672742-C-T
gnomAD v3:
7-141972942-C-T
gnomAD v4:
7-141972942-C-T
COSMIC:
COSM1086355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.141972942C>T , CM000669.2:g.141972942C>T | GRCh38 |
| NC_000007.13:g.141672742C>T , CM000669.1:g.141672742C>T | GRCh37 |
| NC_000007.12:g.141319211C>T | NCBI36 |
| NG_016141.1:g.5832G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000465654.5:c.-3+26945C>T (MGAM) | ENSP00000419372.1:n.-3+26945C>T | |
| ENST00000547270.1:c.748G>A (TAS2R38) MANE Select | ENSP00000448219.1:p.Val250Ile | |
| NM_176817.4:c.748G>A (TAS2R38) | NP_789787.4:p.Val250Ile | |
| XM_011515783.1:c.*25-13454C>T (OR9A4) | XP_011514085.1:n.*25-13454C>T | |
| NM_176817.5:c.748G>A (TAS2R38) MANE Select | NP_789787.5:p.Val250Ile |