Linked Data
dbSNP Id:
rs1031391
gnomAD v2:
12-11279092-C-G
gnomAD v3:
12-11126493-C-G
gnomAD v4:
12-11126493-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.11126493C>G , CM000674.2:g.11126493C>G | GRCh38 |
| NC_000012.11:g.11279092C>G , CM000674.1:g.11279092C>G | GRCh37 |
| NC_000012.10:g.11170359C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000535024.6:c.-134+44929G>C | ENSP00000481571.2:n.-134+44929G>C | |
| ENST00000381852.4:n.152+44929G>C (TAS2R14) | ||
| ENST00000535024.5:c.-134+44929G>C (PRR4) | ENSP00000481571.1:n.-134+44929G>C | |
| ENST00000536668.2:c.-165+44929G>C | ENSP00000482961.1:n.-165+44929G>C | |
| ENST00000541175.1:n.40-5313G>C (PRR4) | ||
| ENST00000541977.5:n.123+44929G>C (PRH1) | ||
| ENST00000546265.1:n.188-5313G>C (PRR4) | ||
| ENST00000610639.1:c.87+7665G>C (TAS2R43) | ENSP00000484910.1:n.87+7665G>C | |
| NM_001291314.1:c.-295+44929G>C (PRH1) | NP_001278243.1:n.-295+44929G>C | |
| NM_001291315.1:c.-134+44929G>C (PRH1) | NP_001278244.1:n.-134+44929G>C | |
| NM_001316893.1:c.-134+44929G>C | NP_001303822.1:n.-134+44929G>C | |
| NR_037918.2:n.204+44929G>C | ||
| NR_133575.1:n.202+44929G>C (PRH1) | ||
| NM_001291314.2:c.-295+44929G>C (PRH1) | NP_001278243.1:n.-295+44929G>C | |
| NM_001291315.2:c.-134+44929G>C (PRH1) | NP_001278244.1:n.-134+44929G>C | |
| NM_001316893.2:c.-134+44929G>C | NP_001303822.1:n.-134+44929G>C | |
| NR_133575.2:n.190+44929G>C (PRH1) |