Linked Data
dbSNP Id:
rs376004402
ExAC:
6:42974903 A / G
gnomAD v2:
6-42974903-A-G
gnomAD v3:
6-43007165-A-G
gnomAD v4:
6-43007165-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43007165A>G , CM000668.2:g.43007165A>G | GRCh38 |
| NC_000006.11:g.42974903A>G , CM000668.1:g.42974903A>G | GRCh37 |
| NC_000006.10:g.43082881A>G | NCBI36 |
| NG_050636.1:g.27667A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000485511.6:c.523-31A>G (PPP2R5D) MANE Select | ENSP00000417963.1:n.523-31A>G | |
| ENST00000676174.1:n.182-31A>G (PPP2R5D) | ||
| ENST00000230402.10:c.*204-31A>G (PPP2R5D) | ENSP00000230402.6:n.*204-31A>G | |
| ENST00000394110.7:c.427-31A>G (PPP2R5D) | ENSP00000377669.3:n.427-31A>G | |
| ENST00000461010.5:c.205-31A>G (PPP2R5D) | ENSP00000420674.1:n.205-31A>G | |
| ENST00000467447.1:n.100-31A>G (PPP2R5D) | ||
| ENST00000470467.5:c.281-31A>G (PPP2R5D) | ||
| ENST00000472118.5:c.499-31A>G (PPP2R5D) | ENSP00000420550.1:n.499-31A>G | |
| ENST00000485511.5:c.523-31A>G (PPP2R5D) | ENSP00000417963.1:n.523-31A>G | |
| NM_001270476.1:c.70-31A>G (PPP2R5D) | NP_001257405.1:n.70-31A>G | |
| NM_006245.3:c.523-31A>G (PPP2R5D) | NP_006236.1:n.523-31A>G | |
| NM_180976.2:c.427-31A>G (PPP2R5D) | NP_851307.1:n.427-31A>G | |
| NM_180977.2:c.205-31A>G (PPP2R5D) | NP_851308.1:n.205-31A>G | |
| XM_005249123.1:c.367+5761T>C (MEA1) | XP_005249180.1:n.367+5761T>C | |
| XM_017010868.1:c.367+5761T>C (MEA1) | XP_016866357.1:n.367+5761T>C | |
| NM_006245.4:c.523-31A>G (PPP2R5D) MANE Select | NP_006236.1:n.523-31A>G | |
| NM_001270476.2:c.70-31A>G (PPP2R5D) | NP_001257405.1:n.70-31A>G | |
| NM_180976.3:c.427-31A>G (PPP2R5D) | NP_851307.1:n.427-31A>G | |
| NM_180977.3:c.205-31A>G (PPP2R5D) | NP_851308.1:n.205-31A>G |