Linked Data
dbSNP Id:
rs1254017123
gnomAD v2:
6-42974907-G-A
gnomAD v3:
6-43007169-G-A
gnomAD v4:
6-43007169-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43007169G>A , CM000668.2:g.43007169G>A | GRCh38 |
| NC_000006.11:g.42974907G>A , CM000668.1:g.42974907G>A | GRCh37 |
| NC_000006.10:g.43082885G>A | NCBI36 |
| NG_050636.1:g.27671G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.523-27G>A (PPP2R5D) MANE Select | ENSP00000417963.1:n.523-27G>A | |
| ENST00000676174.1:n.182-27G>A (PPP2R5D) | ||
| ENST00000230402.10:c.*204-27G>A (PPP2R5D) | ENSP00000230402.6:n.*204-27G>A | |
| ENST00000394110.7:c.427-27G>A (PPP2R5D) | ENSP00000377669.3:n.427-27G>A | |
| ENST00000461010.5:c.205-27G>A (PPP2R5D) | ENSP00000420674.1:n.205-27G>A | |
| ENST00000467447.1:n.100-27G>A (PPP2R5D) | ||
| ENST00000470467.5:c.281-27G>A (PPP2R5D) | ||
| ENST00000472118.5:c.499-27G>A (PPP2R5D) | ENSP00000420550.1:n.499-27G>A | |
| ENST00000485511.5:c.523-27G>A (PPP2R5D) | ENSP00000417963.1:n.523-27G>A | |
| NM_001270476.1:c.70-27G>A (PPP2R5D) | NP_001257405.1:n.70-27G>A | |
| NM_006245.3:c.523-27G>A (PPP2R5D) | NP_006236.1:n.523-27G>A | |
| NM_180976.2:c.427-27G>A (PPP2R5D) | NP_851307.1:n.427-27G>A | |
| NM_180977.2:c.205-27G>A (PPP2R5D) | NP_851308.1:n.205-27G>A | |
| XM_005249123.1:c.367+5757C>T (MEA1) | XP_005249180.1:n.367+5757C>T | |
| XM_017010868.1:c.367+5757C>T (MEA1) | XP_016866357.1:n.367+5757C>T | |
| NM_006245.4:c.523-27G>A (PPP2R5D) MANE Select | NP_006236.1:n.523-27G>A | |
| NM_001270476.2:c.70-27G>A (PPP2R5D) | NP_001257405.1:n.70-27G>A | |
| NM_180976.3:c.427-27G>A (PPP2R5D) | NP_851307.1:n.427-27G>A | |
| NM_180977.3:c.205-27G>A (PPP2R5D) | NP_851308.1:n.205-27G>A |