Linked Data
ClinVar Variation Id:
2984936
ClinVar RCV Id:
RCV003846079
dbSNP Id:
rs1353550371
gnomAD v4:
6-43007184-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43007184C>T , CM000668.2:g.43007184C>T | GRCh38 |
| NC_000006.11:g.42974922C>T , CM000668.1:g.42974922C>T | GRCh37 |
| NC_000006.10:g.43082900C>T | NCBI36 |
| NG_050636.1:g.27686C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.523-12C>T (PPP2R5D) MANE Select | ENSP00000417963.1:n.523-12C>T | |
| ENST00000676174.1:n.182-12C>T (PPP2R5D) | ||
| ENST00000230402.10:c.*204-12C>T (PPP2R5D) | ENSP00000230402.6:n.*204-12C>T | |
| ENST00000394110.7:c.427-12C>T (PPP2R5D) | ENSP00000377669.3:n.427-12C>T | |
| ENST00000461010.5:c.205-12C>T (PPP2R5D) | ENSP00000420674.1:n.205-12C>T | |
| ENST00000467447.1:n.100-12C>T (PPP2R5D) | ||
| ENST00000470467.5:c.281-12C>T (PPP2R5D) | ||
| ENST00000472118.5:c.499-12C>T (PPP2R5D) | ENSP00000420550.1:n.499-12C>T | |
| ENST00000485511.5:c.523-12C>T (PPP2R5D) | ENSP00000417963.1:n.523-12C>T | |
| NM_001270476.1:c.70-12C>T (PPP2R5D) | NP_001257405.1:n.70-12C>T | |
| NM_006245.3:c.523-12C>T (PPP2R5D) | NP_006236.1:n.523-12C>T | |
| NM_180976.2:c.427-12C>T (PPP2R5D) | NP_851307.1:n.427-12C>T | |
| NM_180977.2:c.205-12C>T (PPP2R5D) | NP_851308.1:n.205-12C>T | |
| XM_005249123.1:c.367+5742G>A (MEA1) | XP_005249180.1:n.367+5742G>A | |
| XM_017010868.1:c.367+5742G>A (MEA1) | XP_016866357.1:n.367+5742G>A | |
| NM_006245.4:c.523-12C>T (PPP2R5D) MANE Select | NP_006236.1:n.523-12C>T | |
| NM_001270476.2:c.70-12C>T (PPP2R5D) | NP_001257405.1:n.70-12C>T | |
| NM_180976.3:c.427-12C>T (PPP2R5D) | NP_851307.1:n.427-12C>T | |
| NM_180977.3:c.205-12C>T (PPP2R5D) | NP_851308.1:n.205-12C>T |