Linked Data
ClinVar Variation Id:
653739
ClinVar RCV Id:
RCV000809556
dbSNP Id:
rs1337262848
gnomAD v2:
7-766872-G-A
gnomAD v3:
7-727235-G-A
gnomAD v4:
7-727235-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.727235G>A , CM000669.2:g.727235G>A | GRCh38 |
| NC_000007.13:g.766872G>A , CM000669.1:g.766872G>A | GRCh37 |
| NC_000007.12:g.733398G>A | NCBI36 |
| NG_033137.1:g.5535G>A | |
| NG_042811.1:g.5442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.515G>A (DNAAF5) MANE Select | ENSP00000297440.6:p.Arg172His | |
| ENST00000537384.6:c.-48C>T (PRKAR1B) MANE Select | ENSP00000440449.1:n.-48C>T | |
| ENST00000297440.10:c.515G>A (DNAAF5) | ENSP00000297440.6:p.Arg172His | |
| ENST00000403562.5:c.-23+355C>T (PRKAR1B) | ENSP00000385349.1:n.-23+355C>T | |
| ENST00000417852.5:c.-48C>T (PRKAR1B) | ENSP00000406670.1:n.-48C>T | |
| ENST00000437419.5:c.17G>A (DNAAF5) | ||
| ENST00000488474.1:n.3C>T (PRKAR1B) | ||
| ENST00000537384.5:c.-48C>T (PRKAR1B) | ENSP00000440449.1:n.-48C>T | |
| NM_001164758.1:c.-23+355C>T (PRKAR1B) | NP_001158230.1:n.-23+355C>T | |
| NM_001164759.1:c.-23+420C>T (PRKAR1B) | NP_001158231.1:n.-23+420C>T | |
| NM_001164760.1:c.-48C>T (PRKAR1B) | NP_001158232.1:n.-48C>T | |
| NM_017802.3:c.515G>A (DNAAF5) | NP_060272.3:p.Arg172His | |
| NR_075098.1:n.535G>A (DNAAF5) | ||
| XM_024446813.1:c.515G>A (DNAAF5) | XP_024302581.1:p.Arg172His | |
| NM_001164760.2:c.-48C>T (PRKAR1B) MANE Select | NP_001158232.1:n.-48C>T | |
| NM_017802.4:c.515G>A (DNAAF5) MANE Select | NP_060272.3:p.Arg172His | |
| NR_075098.2:n.537G>A (DNAAF5) | ||
| NM_001164758.2:c.-23+355C>T (PRKAR1B) | NP_001158230.1:n.-23+355C>T |