Linked Data
dbSNP Id:
rs765525186
ExAC:
2:179296972 C / G
gnomAD v2:
2-179296972-C-G
gnomAD v4:
2-178432245-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178432245C>G , CM000664.2:g.178432245C>G | GRCh38 |
| NC_000002.11:g.179296972C>G , CM000664.1:g.179296972C>G | GRCh37 |
| NC_000002.10:g.179005218C>G | NCBI36 |
| NG_009053.1:g.23987G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000325748.9:c.794G>C (PRKRA) MANE Select | ENSP00000318176.4:p.Ser265Thr | |
| ENST00000448279.2:c.*522G>C (PRKRA) | ENSP00000388455.1:n.*522G>C | |
| ENST00000457633.2:c.*298G>C (PRKRA) | ENSP00000408668.2:n.*298G>C | |
| ENST00000474793.6:n.935G>C (PRKRA) | ||
| ENST00000676505.1:c.*554G>C (PRKRA) | ENSP00000504163.1:n.*554G>C | |
| ENST00000676586.1:n.2931G>C (PRKRA) | ||
| ENST00000676752.1:n.2693G>C (PRKRA) | ||
| ENST00000676832.1:c.*615G>C (PRKRA) | ENSP00000503231.1:n.*615G>C | |
| ENST00000676922.1:c.*522G>C (PRKRA) | ENSP00000503369.1:n.*522G>C | |
| ENST00000677136.1:n.2786G>C (PRKRA) | ||
| ENST00000677206.1:c.*586G>C (PRKRA) | ENSP00000503034.1:n.*586G>C | |
| ENST00000677253.1:c.*491G>C (PRKRA) | ENSP00000503466.1:n.*491G>C | |
| ENST00000677386.1:c.*237G>C (PRKRA) | ENSP00000503003.1:n.*237G>C | |
| ENST00000677460.1:c.*123G>C (PRKRA) | ENSP00000504507.1:n.*123G>C | |
| ENST00000677584.1:c.*632G>C (PRKRA) | ENSP00000504411.1:n.*632G>C | |
| ENST00000677689.1:c.539G>C (PRKRA) | ENSP00000502919.1:p.Ser180Thr | |
| ENST00000677859.1:c.647G>C (PRKRA) | ||
| ENST00000677981.1:c.542G>C (PRKRA) | ENSP00000503536.1:p.Ser181Thr | |
| ENST00000678053.1:c.*554G>C (PRKRA) | ENSP00000504330.1:n.*554G>C | |
| ENST00000678058.1:c.538G>C (PRKRA) | ENSP00000503203.1:n.538G>C | |
| ENST00000678167.1:c.*348G>C (PRKRA) | ENSP00000504479.1:n.*348G>C | |
| ENST00000678775.1:c.455G>C (PRKRA) | ENSP00000504030.1:p.Ser152Thr | |
| ENST00000678845.1:c.455G>C (PRKRA) | ENSP00000503011.1:p.Ser152Thr | |
| ENST00000679037.1:c.*462G>C (PRKRA) | ENSP00000504421.1:n.*462G>C | |
| ENST00000679202.1:n.1881G>C (PRKRA) | ||
| ENST00000325748.8:c.794G>C (PRKRA) | ENSP00000318176.4:p.Ser265Thr | |
| ENST00000424699.5:c.*586G>C (PRKRA) | ENSP00000408029.1:n.*586G>C | |
| ENST00000432031.6:c.761G>C (PRKRA) | ENSP00000393883.2:p.Ser254Thr | |
| ENST00000487082.5:c.719G>C (PRKRA) | ENSP00000430604.1:p.Ser240Thr | |
| ENST00000490501.5:n.1021G>C (PRKRA) | ||
| NM_001139517.1:c.761G>C (PRKRA) | NP_001132989.1:p.Ser254Thr | |
| NM_001139518.1:c.719G>C (PRKRA) | NP_001132990.1:p.Ser240Thr | |
| NM_001316362.1:c.455G>C (PRKRA) | NP_001303291.1:p.Ser152Thr | |
| NM_003690.4:c.794G>C (PRKRA) | NP_003681.1:p.Ser265Thr | |
| NR_110204.1:n.872-1137C>G (CHROMR) | ||
| NR_110205.1:n.716-1137C>G (CHROMR) | ||
| NR_110206.1:n.651-1137C>G (CHROMR) | ||
| XM_005246921.3:c.455G>C (PRKRA) | XP_005246978.1:p.Ser152Thr | |
| XM_011512063.1:c.539G>C (PRKRA) | XP_011510365.1:p.Ser180Thr | |
| XM_011512064.1:c.539G>C (PRKRA) | XP_011510366.1:p.Ser180Thr | |
| XM_011512066.1:c.455G>C (PRKRA) | XP_011510368.1:p.Ser152Thr | |
| XM_011512063.2:c.539G>C (PRKRA) | XP_011510365.1:p.Ser180Thr | |
| XM_011512066.2:c.455G>C (PRKRA) | XP_011510368.1:p.Ser152Thr | |
| XM_017005159.1:c.455G>C (PRKRA) | XP_016860648.1:p.Ser152Thr | |
| XR_001739008.2:n.835G>C (PRKRA) | ||
| NM_003690.5:c.794G>C (PRKRA) MANE Select | NP_003681.1:p.Ser265Thr | |
| NM_001316362.2:c.455G>C (PRKRA) | NP_001303291.1:p.Ser152Thr |