Linked Data
dbSNP Id:
rs1484902294
gnomAD v2:
2-179296902-A-G
gnomAD v3:
2-178432175-A-G
gnomAD v4:
2-178432175-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178432175A>G , CM000664.2:g.178432175A>G | GRCh38 |
| NC_000002.11:g.179296902A>G , CM000664.1:g.179296902A>G | GRCh37 |
| NC_000002.10:g.179005148A>G | NCBI36 |
| NG_009053.1:g.24057T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325748.9:c.864T>C (PRKRA) MANE Select | ENSP00000318176.4:p.Gly288= | |
| ENST00000448279.2:c.*592T>C (PRKRA) | ENSP00000388455.1:n.*592T>C | |
| ENST00000457633.2:c.*368T>C (PRKRA) | ENSP00000408668.2:n.*368T>C | |
| ENST00000474793.6:n.1005T>C (PRKRA) | ||
| ENST00000676505.1:c.*624T>C (PRKRA) | ENSP00000504163.1:n.*624T>C | |
| ENST00000676586.1:n.3001T>C (PRKRA) | ||
| ENST00000676752.1:n.2763T>C (PRKRA) | ||
| ENST00000676832.1:c.*685T>C (PRKRA) | ENSP00000503231.1:n.*685T>C | |
| ENST00000676922.1:c.*592T>C (PRKRA) | ENSP00000503369.1:n.*592T>C | |
| ENST00000677136.1:n.2856T>C (PRKRA) | ||
| ENST00000677206.1:c.*656T>C (PRKRA) | ENSP00000503034.1:n.*656T>C | |
| ENST00000677253.1:c.*561T>C (PRKRA) | ENSP00000503466.1:n.*561T>C | |
| ENST00000677386.1:c.*307T>C (PRKRA) | ENSP00000503003.1:n.*307T>C | |
| ENST00000677460.1:c.*193T>C (PRKRA) | ENSP00000504507.1:n.*193T>C | |
| ENST00000677584.1:c.*702T>C (PRKRA) | ENSP00000504411.1:n.*702T>C | |
| ENST00000677689.1:c.609T>C (PRKRA) | ENSP00000502919.1:p.Gly203= | |
| ENST00000677859.1:c.717T>C (PRKRA) | ||
| ENST00000677981.1:c.612T>C (PRKRA) | ENSP00000503536.1:p.Gly204= | |
| ENST00000678053.1:c.*624T>C (PRKRA) | ENSP00000504330.1:n.*624T>C | |
| ENST00000678058.1:c.608T>C (PRKRA) | ENSP00000503203.1:n.608T>C | |
| ENST00000678167.1:c.*418T>C (PRKRA) | ENSP00000504479.1:n.*418T>C | |
| ENST00000678775.1:c.525T>C (PRKRA) | ENSP00000504030.1:p.Gly175= | |
| ENST00000678845.1:c.525T>C (PRKRA) | ENSP00000503011.1:p.Gly175= | |
| ENST00000679037.1:c.*532T>C (PRKRA) | ENSP00000504421.1:n.*532T>C | |
| ENST00000679202.1:n.1951T>C (PRKRA) | ||
| ENST00000325748.8:c.864T>C (PRKRA) | ENSP00000318176.4:p.Gly288= | |
| ENST00000424699.5:c.*656T>C (PRKRA) | ENSP00000408029.1:n.*656T>C | |
| ENST00000432031.6:c.831T>C (PRKRA) | ENSP00000393883.2:p.Gly277= | |
| ENST00000487082.5:c.789T>C (PRKRA) | ENSP00000430604.1:p.Gly263= | |
| ENST00000490501.5:n.1091T>C (PRKRA) | ||
| NM_001139517.1:c.831T>C (PRKRA) | NP_001132989.1:p.Gly277= | |
| NM_001139518.1:c.789T>C (PRKRA) | NP_001132990.1:p.Gly263= | |
| NM_001316362.1:c.525T>C (PRKRA) | NP_001303291.1:p.Gly175= | |
| NM_003690.4:c.864T>C (PRKRA) | NP_003681.1:p.Gly288= | |
| NR_110204.1:n.872-1207A>G (CHROMR) | ||
| NR_110205.1:n.716-1207A>G (CHROMR) | ||
| NR_110206.1:n.651-1207A>G (CHROMR) | ||
| XM_005246921.3:c.525T>C (PRKRA) | XP_005246978.1:p.Gly175= | |
| XM_011512063.1:c.609T>C (PRKRA) | XP_011510365.1:p.Gly203= | |
| XM_011512064.1:c.609T>C (PRKRA) | XP_011510366.1:p.Gly203= | |
| XM_011512066.1:c.525T>C (PRKRA) | XP_011510368.1:p.Gly175= | |
| XM_011512063.2:c.609T>C (PRKRA) | XP_011510365.1:p.Gly203= | |
| XM_011512066.2:c.525T>C (PRKRA) | XP_011510368.1:p.Gly175= | |
| XM_017005159.1:c.525T>C (PRKRA) | XP_016860648.1:p.Gly175= | |
| XR_001739008.2:n.905T>C (PRKRA) | ||
| NM_003690.5:c.864T>C (PRKRA) MANE Select | NP_003681.1:p.Gly288= | |
| NM_001316362.2:c.525T>C (PRKRA) | NP_001303291.1:p.Gly175= |