Linked Data
ClinVar Variation Id:
161835
ClinVar RCV Id:
RCV000149371
dbSNP Id:
rs193920802
gnomAD v3:
12-10997622-G-C
gnomAD v4:
12-10997622-G-C
COSMIC:
COSM5521414
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.10997622G>C , CM000674.2:g.10997622G>C | GRCh38 |
| NC_000012.11:g.11150221G>C , CM000674.1:g.11150221G>C | GRCh37 |
| NC_000012.10:g.11041488G>C | NCBI36 |
| NG_051254.1:g.5683C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703543.1:c.-125-23901C>G | ENSP00000515364.1:n.-125-23901C>G | |
| ENST00000538986.2:c.254C>G (TAS2R20) MANE Select | ENSP00000441624.1:p.Ser85Cys | |
| ENST00000535024.6:c.37-23901C>G | ENSP00000481571.2:n.37-23901C>G | |
| ENST00000381852.4:n.426-23901C>G (TAS2R14) | ||
| ENST00000534923.1:n.96-23901C>G (PRR4) | ||
| ENST00000535024.5:c.37-23901C>G (PRR4) | ENSP00000481571.1:n.37-23901C>G | |
| ENST00000536086.2:n.23-23901C>G (PRH1) | ||
| ENST00000536668.2:c.110-23901C>G | ENSP00000482961.1:n.110-23901C>G | |
| ENST00000538986.1:c.254C>G (TAS2R20) | ENSP00000441624.1:p.Ser85Cys | |
| ENST00000539853.5:c.-125-23901C>G (PRH1) | ENSP00000482068.1:n.-125-23901C>G | |
| ENST00000541977.5:n.293-23901C>G (PRH1) | ||
| NM_001291314.1:c.-125-23901C>G (PRH1) | NP_001278243.1:n.-125-23901C>G | |
| NM_001291315.1:c.37-23901C>G (PRH1) | NP_001278244.1:n.37-23901C>G | |
| NM_001316893.1:c.141-23901C>G | NP_001303822.1:n.141-23901C>G | |
| NM_176889.2:c.254C>G (TAS2R20) | NP_795370.2:p.Ser85Cys | |
| NR_037918.2:n.478-23901C>G | ||
| NR_133575.1:n.372-23901C>G (PRH1) | ||
| NM_176889.3:c.254C>G (TAS2R20) | NP_795370.2:p.Ser85Cys | |
| NM_001291314.2:c.-125-23901C>G (PRH1) | NP_001278243.1:n.-125-23901C>G | |
| NM_001291315.2:c.37-23901C>G (PRH1) | NP_001278244.1:n.37-23901C>G | |
| NM_001316893.2:c.141-23901C>G | NP_001303822.1:n.141-23901C>G | |
| NR_133575.2:n.360-23901C>G (PRH1) | ||
| NM_176889.4:c.254C>G (TAS2R20) MANE Select | NP_795370.2:p.Ser85Cys |