Linked Data
ClinVar Variation Id:
332621
ClinVar RCV Id:
RCV000373560
dbSNP Id:
rs537898766
ExAC:
2:179296896 G / A
gnomAD v2:
2-179296896-G-A
gnomAD v3:
2-178432169-G-A
gnomAD v4:
2-178432169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178432169G>A , CM000664.2:g.178432169G>A | GRCh38 |
| NC_000002.11:g.179296896G>A , CM000664.1:g.179296896G>A | GRCh37 |
| NC_000002.10:g.179005142G>A | NCBI36 |
| NG_009053.1:g.24063C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325748.9:c.870C>T (PRKRA) MANE Select | ENSP00000318176.4:p.Ser290= | |
| ENST00000448279.2:c.*598C>T (PRKRA) | ENSP00000388455.1:n.*598C>T | |
| ENST00000457633.2:c.*374C>T (PRKRA) | ENSP00000408668.2:n.*374C>T | |
| ENST00000474793.6:n.1011C>T (PRKRA) | ||
| ENST00000676505.1:c.*630C>T (PRKRA) | ENSP00000504163.1:n.*630C>T | |
| ENST00000676586.1:n.3007C>T (PRKRA) | ||
| ENST00000676752.1:n.2769C>T (PRKRA) | ||
| ENST00000676832.1:c.*691C>T (PRKRA) | ENSP00000503231.1:n.*691C>T | |
| ENST00000676922.1:c.*598C>T (PRKRA) | ENSP00000503369.1:n.*598C>T | |
| ENST00000677136.1:n.2862C>T (PRKRA) | ||
| ENST00000677206.1:c.*662C>T (PRKRA) | ENSP00000503034.1:n.*662C>T | |
| ENST00000677253.1:c.*567C>T (PRKRA) | ENSP00000503466.1:n.*567C>T | |
| ENST00000677386.1:c.*313C>T (PRKRA) | ENSP00000503003.1:n.*313C>T | |
| ENST00000677460.1:c.*199C>T (PRKRA) | ENSP00000504507.1:n.*199C>T | |
| ENST00000677584.1:c.*708C>T (PRKRA) | ENSP00000504411.1:n.*708C>T | |
| ENST00000677689.1:c.615C>T (PRKRA) | ENSP00000502919.1:p.Ser205= | |
| ENST00000677859.1:c.723C>T (PRKRA) | ||
| ENST00000677981.1:c.618C>T (PRKRA) | ENSP00000503536.1:p.Ser206= | |
| ENST00000678053.1:c.*630C>T (PRKRA) | ENSP00000504330.1:n.*630C>T | |
| ENST00000678058.1:c.614C>T (PRKRA) | ENSP00000503203.1:n.614C>T | |
| ENST00000678167.1:c.*424C>T (PRKRA) | ENSP00000504479.1:n.*424C>T | |
| ENST00000678775.1:c.531C>T (PRKRA) | ENSP00000504030.1:p.Ser177= | |
| ENST00000678845.1:c.531C>T (PRKRA) | ENSP00000503011.1:p.Ser177= | |
| ENST00000679037.1:c.*538C>T (PRKRA) | ENSP00000504421.1:n.*538C>T | |
| ENST00000679202.1:n.1957C>T (PRKRA) | ||
| ENST00000325748.8:c.870C>T (PRKRA) | ENSP00000318176.4:p.Ser290= | |
| ENST00000424699.5:c.*662C>T (PRKRA) | ENSP00000408029.1:n.*662C>T | |
| ENST00000432031.6:c.837C>T (PRKRA) | ENSP00000393883.2:p.Ser279= | |
| ENST00000487082.5:c.795C>T (PRKRA) | ENSP00000430604.1:p.Ser265= | |
| ENST00000490501.5:n.1097C>T (PRKRA) | ||
| NM_001139517.1:c.837C>T (PRKRA) | NP_001132989.1:p.Ser279= | |
| NM_001139518.1:c.795C>T (PRKRA) | NP_001132990.1:p.Ser265= | |
| NM_001316362.1:c.531C>T (PRKRA) | NP_001303291.1:p.Ser177= | |
| NM_003690.4:c.870C>T (PRKRA) | NP_003681.1:p.Ser290= | |
| NR_110204.1:n.872-1213G>A (CHROMR) | ||
| NR_110205.1:n.716-1213G>A (CHROMR) | ||
| NR_110206.1:n.651-1213G>A (CHROMR) | ||
| XM_005246921.3:c.531C>T (PRKRA) | XP_005246978.1:p.Ser177= | |
| XM_011512063.1:c.615C>T (PRKRA) | XP_011510365.1:p.Ser205= | |
| XM_011512064.1:c.615C>T (PRKRA) | XP_011510366.1:p.Ser205= | |
| XM_011512066.1:c.531C>T (PRKRA) | XP_011510368.1:p.Ser177= | |
| XM_011512063.2:c.615C>T (PRKRA) | XP_011510365.1:p.Ser205= | |
| XM_011512066.2:c.531C>T (PRKRA) | XP_011510368.1:p.Ser177= | |
| XM_017005159.1:c.531C>T (PRKRA) | XP_016860648.1:p.Ser177= | |
| XR_001739008.2:n.911C>T (PRKRA) | ||
| NM_003690.5:c.870C>T (PRKRA) MANE Select | NP_003681.1:p.Ser290= | |
| NM_001316362.2:c.531C>T (PRKRA) | NP_001303291.1:p.Ser177= |