Linked Data
ClinVar Variation Id:
241208
dbSNP Id:
rs878855039
gnomAD v2:
7-766907-C-A
gnomAD v3:
7-727270-C-A
gnomAD v4:
7-727270-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.727270C>A , CM000669.2:g.727270C>A | GRCh38 |
| NC_000007.13:g.766907C>A , CM000669.1:g.766907C>A | GRCh37 |
| NC_000007.12:g.733433C>A | NCBI36 |
| NG_033137.1:g.5570C>A | |
| NG_042811.1:g.5407G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.550C>A (DNAAF5) MANE Select | ENSP00000297440.6:p.Arg184Ser | |
| ENST00000537384.6:c.-83G>T (PRKAR1B) MANE Select | ENSP00000440449.1:n.-83G>T | |
| ENST00000297440.10:c.550C>A (DNAAF5) | ENSP00000297440.6:p.Arg184Ser | |
| ENST00000403562.5:c.-23+320G>T (PRKAR1B) | ENSP00000385349.1:n.-23+320G>T | |
| ENST00000417852.5:c.-83G>T (PRKAR1B) | ENSP00000406670.1:n.-83G>T | |
| ENST00000437419.5:c.52C>A (DNAAF5) | ||
| ENST00000438961.1:n.19C>A (DNAAF5) | ||
| ENST00000440747.5:c.16C>A (DNAAF5) | ||
| ENST00000537384.5:c.-83G>T (PRKAR1B) | ENSP00000440449.1:n.-83G>T | |
| NM_001164758.1:c.-23+320G>T (PRKAR1B) | NP_001158230.1:n.-23+320G>T | |
| NM_001164759.1:c.-23+385G>T (PRKAR1B) | NP_001158231.1:n.-23+385G>T | |
| NM_001164760.1:c.-83G>T (PRKAR1B) | NP_001158232.1:n.-83G>T | |
| NM_017802.3:c.550C>A (DNAAF5) | NP_060272.3:p.Arg184Ser | |
| NR_075098.1:n.570C>A (DNAAF5) | ||
| XM_024446813.1:c.550C>A (DNAAF5) | XP_024302581.1:p.Arg184Ser | |
| NM_001164760.2:c.-83G>T (PRKAR1B) MANE Select | NP_001158232.1:n.-83G>T | |
| NM_017802.4:c.550C>A (DNAAF5) MANE Select | NP_060272.3:p.Arg184Ser | |
| NR_075098.2:n.572C>A (DNAAF5) | ||
| NM_001164758.2:c.-23+320G>T (PRKAR1B) | NP_001158230.1:n.-23+320G>T |