Linked Data
ClinVar Variation Id:
1475639
ClinVar RCV Id:
RCV002007921
dbSNP Id:
rs902736696
gnomAD v2:
7-766874-T-C
gnomAD v3:
7-727237-T-C
gnomAD v4:
7-727237-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.727237T>C , CM000669.2:g.727237T>C | GRCh38 |
| NC_000007.13:g.766874T>C , CM000669.1:g.766874T>C | GRCh37 |
| NC_000007.12:g.733400T>C | NCBI36 |
| NG_033137.1:g.5537T>C | |
| NG_042811.1:g.5440A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.517T>C (DNAAF5) MANE Select | ENSP00000297440.6:p.Cys173Arg | |
| ENST00000537384.6:c.-50A>G (PRKAR1B) MANE Select | ENSP00000440449.1:n.-50A>G | |
| ENST00000297440.10:c.517T>C (DNAAF5) | ENSP00000297440.6:p.Cys173Arg | |
| ENST00000403562.5:c.-23+353A>G (PRKAR1B) | ENSP00000385349.1:n.-23+353A>G | |
| ENST00000417852.5:c.-50A>G (PRKAR1B) | ENSP00000406670.1:n.-50A>G | |
| ENST00000437419.5:c.19T>C (DNAAF5) | ||
| ENST00000488474.1:n.1A>G (PRKAR1B) | ||
| ENST00000537384.5:c.-50A>G (PRKAR1B) | ENSP00000440449.1:n.-50A>G | |
| NM_001164758.1:c.-23+353A>G (PRKAR1B) | NP_001158230.1:n.-23+353A>G | |
| NM_001164759.1:c.-23+418A>G (PRKAR1B) | NP_001158231.1:n.-23+418A>G | |
| NM_001164760.1:c.-50A>G (PRKAR1B) | NP_001158232.1:n.-50A>G | |
| NM_017802.3:c.517T>C (DNAAF5) | NP_060272.3:p.Cys173Arg | |
| NR_075098.1:n.537T>C (DNAAF5) | ||
| XM_024446813.1:c.517T>C (DNAAF5) | XP_024302581.1:p.Cys173Arg | |
| NM_001164760.2:c.-50A>G (PRKAR1B) MANE Select | NP_001158232.1:n.-50A>G | |
| NM_017802.4:c.517T>C (DNAAF5) MANE Select | NP_060272.3:p.Cys173Arg | |
| NR_075098.2:n.539T>C (DNAAF5) | ||
| NM_001164758.2:c.-23+353A>G (PRKAR1B) | NP_001158230.1:n.-23+353A>G |