Linked Data
ClinVar Variation Id:
139648
ClinVar RCV Id:
RCV000128612
dbSNP Id:
rs587777530
PubMed:
PMID:23468644
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.68543723T>C , CM000679.2:g.68543723T>C | GRCh38 |
| NC_000017.10:g.66539864T>C , CM000679.1:g.66539864T>C | GRCh37 |
| NC_000017.9:g.64051459T>C | NCBI36 |
| NG_007093.3:g.135101T>C , LRG_514:g.135101T>C | |
| NG_029809.1:g.62232A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588188.7:c.974-7361T>C (PRKAR1A) | ENSP00000468106.2:n.974-7361T>C | |
| ENST00000711037.1:c.974-7361T>C (PRKAR1A) | ENSP00000518555.1:n.974-7361T>C | |
| ENST00000585981.6:c.974-7361T>C (PRKAR1A) | ENSP00000467311.2:n.974-7361T>C | |
| ENST00000592554.2:c.720-2A>G (FAM20A) MANE Select | ENSP00000468308.1:n.720-2A>G | |
| ENST00000226094.9:n.377-6A>G (FAM20A) | ||
| ENST00000588188.6:c.974-7361T>C (PRKAR1A) | ENSP00000468106.2:n.974-7361T>C | |
| ENST00000590074.5:c.876-2A>G (FAM20A) | ||
| ENST00000592554.1:c.720-2A>G (FAM20A) | ENSP00000468308.1:n.720-2A>G | |
| ENST00000592847.1:n.362-2A>G (FAM20A) | ||
| NM_001243746.1:c.306-2A>G (FAM20A) | NP_001230675.1:n.306-2A>G | |
| NM_001276290.1:c.974-7361T>C (PRKAR1A) | NP_001263219.1:n.974-7361T>C | |
| NM_017565.3:c.720-2A>G (FAM20A) | NP_060035.2:n.720-2A>G | |
| NR_027751.1:n.414-6A>G (FAM20A) | ||
| XM_006721959.2:c.306-2A>G (FAM20A) | XP_006722022.1:n.306-2A>G | |
| XM_006721960.2:c.720-2A>G (FAM20A) | XP_006722023.1:n.720-2A>G | |
| XM_011524917.1:c.720-6A>G (FAM20A) | XP_011523219.1:n.720-6A>G | |
| XM_011524918.1:c.720-2A>G (FAM20A) | XP_011523220.1:n.720-2A>G | |
| XM_011524919.1:c.720-2A>G (FAM20A) | XP_011523221.1:n.720-2A>G | |
| XM_011524920.1:c.720-2A>G (FAM20A) | XP_011523222.1:n.720-2A>G | |
| XM_011524921.1:c.720-2A>G (FAM20A) | XP_011523223.1:n.720-2A>G | |
| XR_429905.1:n.848-6A>G (FAM20A) | ||
| XR_934486.1:n.848-2A>G (FAM20A) | ||
| XR_934487.1:n.848-2A>G (FAM20A) | ||
| XR_934488.1:n.848-2A>G (FAM20A) | ||
| XR_934489.1:n.848-2A>G (FAM20A) | ||
| XR_934490.1:n.848-2A>G (FAM20A) | ||
| XM_006721959.3:c.306-2A>G (FAM20A) | XP_006722022.1:n.306-2A>G | |
| XM_011524918.3:c.720-2A>G (FAM20A) | XP_011523220.1:n.720-2A>G | |
| XM_017024781.2:c.720-2A>G (FAM20A) | XP_016880270.1:n.720-2A>G | |
| XR_001752543.2:n.791-2A>G (FAM20A) | ||
| XR_001752544.2:n.791-2A>G (FAM20A) | ||
| XR_002958041.1:n.791-2A>G (FAM20A) | ||
| XR_429905.2:n.791-6A>G (FAM20A) | ||
| XR_934487.3:n.791-2A>G (FAM20A) | ||
| NM_017565.4:c.720-2A>G (FAM20A) MANE Select | NP_060035.2:n.720-2A>G | |
| NM_001243746.2:c.306-2A>G (FAM20A) | NP_001230675.1:n.306-2A>G | |
| NR_027751.2:n.414-6A>G (FAM20A) |