Linked Data
dbSNP Id:
rs1376251
ExAC:
12:11138852 C / T
gnomAD v2:
12-11138852-C-T
gnomAD v3:
12-10986253-C-T
gnomAD v4:
12-10986253-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10986253C>T , CM000674.2:g.10986253C>T | GRCh38 |
| NC_000012.11:g.11138852C>T , CM000674.1:g.11138852C>T | GRCh37 |
| NC_000012.10:g.11030119C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703543.1:c.-125-12532G>A | ENSP00000515364.1:n.-125-12532G>A | |
| ENST00000535024.6:c.37-12532G>A | ENSP00000481571.2:n.37-12532G>A | |
| ENST00000381852.4:n.426-12532G>A (TAS2R14) | ||
| ENST00000506868.1:c.608G>A (TAS2R50) MANE Select | ENSP00000424040.1:p.Cys203Tyr | |
| ENST00000534923.1:n.96-12532G>A (PRR4) | ||
| ENST00000535024.5:c.37-12532G>A (PRR4) | ENSP00000481571.1:n.37-12532G>A | |
| ENST00000536086.2:n.23-12532G>A (PRH1) | ||
| ENST00000536668.2:c.110-12532G>A | ENSP00000482961.1:n.110-12532G>A | |
| ENST00000539853.5:c.-125-12532G>A (PRH1) | ENSP00000482068.1:n.-125-12532G>A | |
| ENST00000541977.5:n.293-12532G>A (PRH1) | ||
| NM_001291314.1:c.-125-12532G>A (PRH1) | NP_001278243.1:n.-125-12532G>A | |
| NM_001291315.1:c.37-12532G>A (PRH1) | NP_001278244.1:n.37-12532G>A | |
| NM_001316893.1:c.141-12532G>A | NP_001303822.1:n.141-12532G>A | |
| NM_176890.2:c.608G>A (TAS2R50) MANE Select | NP_795371.2:p.Cys203Tyr | |
| NR_037918.2:n.478-12532G>A | ||
| NR_133575.1:n.372-12532G>A (PRH1) | ||
| NM_001291314.2:c.-125-12532G>A (PRH1) | NP_001278243.1:n.-125-12532G>A | |
| NM_001291315.2:c.37-12532G>A (PRH1) | NP_001278244.1:n.37-12532G>A | |
| NM_001316893.2:c.141-12532G>A | NP_001303822.1:n.141-12532G>A | |
| NR_133575.2:n.360-12532G>A (PRH1) |