Linked Data
ClinVar Variation Id:
6346
dbSNP Id:
rs121434410
ExAC:
2:179300991 G / A
gnomAD v2:
2-179300991-G-A
gnomAD v3:
2-178436264-G-A
gnomAD v4:
2-178436264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178436264G>A , CM000664.2:g.178436264G>A | GRCh38 |
| NC_000002.11:g.179300991G>A , CM000664.1:g.179300991G>A | GRCh37 |
| NC_000002.10:g.179009237G>A | NCBI36 |
| NG_009053.1:g.19968C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000325748.9:c.665C>T (PRKRA) MANE Select | ENSP00000318176.4:p.Pro222Leu | |
| ENST00000448279.2:c.*393C>T (PRKRA) | ENSP00000388455.1:n.*393C>T | |
| ENST00000457633.2:c.*169C>T (PRKRA) | ENSP00000408668.2:n.*169C>T | |
| ENST00000474793.6:n.806C>T (PRKRA) | ||
| ENST00000676505.1:c.*425C>T (PRKRA) | ENSP00000504163.1:n.*425C>T | |
| ENST00000676586.1:n.2802C>T (PRKRA) | ||
| ENST00000676752.1:n.2564C>T (PRKRA) | ||
| ENST00000676832.1:c.*486C>T (PRKRA) | ENSP00000503231.1:n.*486C>T | |
| ENST00000676922.1:c.*393C>T (PRKRA) | ENSP00000503369.1:n.*393C>T | |
| ENST00000677136.1:n.2657C>T (PRKRA) | ||
| ENST00000677206.1:c.*457C>T (PRKRA) | ENSP00000503034.1:n.*457C>T | |
| ENST00000677253.1:c.*362C>T (PRKRA) | ENSP00000503466.1:n.*362C>T | |
| ENST00000677386.1:c.*108C>T (PRKRA) | ENSP00000503003.1:n.*108C>T | |
| ENST00000677460.1:c.570C>T (PRKRA) | ENSP00000504507.1:p.Ser190= | |
| ENST00000677584.1:c.*503C>T (PRKRA) | ENSP00000504411.1:n.*503C>T | |
| ENST00000677689.1:c.410C>T (PRKRA) | ENSP00000502919.1:p.Pro137Leu | |
| ENST00000677859.1:c.518C>T (PRKRA) | ||
| ENST00000677981.1:c.413C>T (PRKRA) | ENSP00000503536.1:p.Pro138Leu | |
| ENST00000678053.1:c.*425C>T (PRKRA) | ENSP00000504330.1:n.*425C>T | |
| ENST00000678058.1:c.409C>T (PRKRA) | ENSP00000503203.1:n.409C>T | |
| ENST00000678167.1:c.*219C>T (PRKRA) | ENSP00000504479.1:n.*219C>T | |
| ENST00000678775.1:c.326C>T (PRKRA) | ENSP00000504030.1:p.Pro109Leu | |
| ENST00000678845.1:c.326C>T (PRKRA) | ENSP00000503011.1:p.Pro109Leu | |
| ENST00000679037.1:c.*333C>T (PRKRA) | ENSP00000504421.1:n.*333C>T | |
| ENST00000679202.1:n.1752C>T (PRKRA) | ||
| ENST00000325748.8:c.665C>T (PRKRA) | ENSP00000318176.4:p.Pro222Leu | |
| ENST00000424699.5:c.*457C>T (PRKRA) | ENSP00000408029.1:n.*457C>T | |
| ENST00000432031.6:c.632C>T (PRKRA) | ENSP00000393883.2:p.Pro211Leu | |
| ENST00000487082.5:c.590C>T (PRKRA) | ENSP00000430604.1:p.Pro197Leu | |
| ENST00000490501.5:n.892C>T (PRKRA) | ||
| NM_001139517.1:c.632C>T (PRKRA) | NP_001132989.1:p.Pro211Leu | |
| NM_001139518.1:c.590C>T (PRKRA) | NP_001132990.1:p.Pro197Leu | |
| NM_001316362.1:c.326C>T (PRKRA) | NP_001303291.1:p.Pro109Leu | |
| NM_003690.4:c.665C>T (PRKRA) | NP_003681.1:p.Pro222Leu | |
| NR_110204.1:n.966-2603G>A (CHROMR) | ||
| XM_005246921.3:c.326C>T (PRKRA) | XP_005246978.1:p.Pro109Leu | |
| XM_011512063.1:c.410C>T (PRKRA) | XP_011510365.1:p.Pro137Leu | |
| XM_011512064.1:c.410C>T (PRKRA) | XP_011510366.1:p.Pro137Leu | |
| XM_011512066.1:c.326C>T (PRKRA) | XP_011510368.1:p.Pro109Leu | |
| XM_011512063.2:c.410C>T (PRKRA) | XP_011510365.1:p.Pro137Leu | |
| XM_011512066.2:c.326C>T (PRKRA) | XP_011510368.1:p.Pro109Leu | |
| XM_017005159.1:c.326C>T (PRKRA) | XP_016860648.1:p.Pro109Leu | |
| XR_001739008.2:n.706C>T (PRKRA) | ||
| NM_003690.5:c.665C>T (PRKRA) MANE Select | NP_003681.1:p.Pro222Leu | |
| NM_001316362.2:c.326C>T (PRKRA) | NP_001303291.1:p.Pro109Leu |