Linked Data
ClinVar Variation Id:
161807
ClinVar RCV Id:
RCV000149343
dbSNP Id:
rs193920880
ExAC:
19:40886619 C / T
gnomAD v2:
19-40886619-C-T
gnomAD v3:
19-40380712-C-T
gnomAD v4:
19-40380712-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40380712C>T , CM000681.2:g.40380712C>T | GRCh38 |
| NC_000019.9:g.40886619C>T , CM000681.1:g.40886619C>T | GRCh37 |
| NC_000019.8:g.45578459C>T | NCBI36 |
| NG_051224.1:g.14510G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700616.1:c.*2539C>T (PLD3) | ENSP00000515107.1:n.*2539C>T | |
| ENST00000700619.1:c.*386C>T (PLD3) | ENSP00000515110.1:n.*386C>T | |
| ENST00000700620.1:c.*50+2489C>T (PLD3) | ENSP00000515111.1:n.*50+2489C>T | |
| ENST00000700621.1:c.*2539C>T (PLD3) | ENSP00000515112.1:n.*2539C>T | |
| ENST00000700623.1:c.*2539C>T (PLD3) | ENSP00000515113.1:n.*2539C>T | |
| ENST00000700624.1:c.*2539C>T (PLD3) | ENSP00000515114.2:n.*2539C>T | |
| ENST00000700625.1:c.*2539C>T (PLD3) | ENSP00000515115.1:n.*2539C>T | |
| ENST00000700626.1:c.*2539C>T (PLD3) | ENSP00000515116.1:n.*2539C>T | |
| ENST00000700628.1:c.*2539C>T (PLD3) | ENSP00000515117.1:n.*2539C>T | |
| ENST00000700630.1:c.*2539C>T (PLD3) | ENSP00000515118.1:n.*2539C>T | |
| ENST00000700632.1:c.*386C>T (PLD3) | ENSP00000515120.1:n.*386C>T | |
| ENST00000700633.1:c.*50+2489C>T (PLD3) | ENSP00000515121.1:n.*50+2489C>T | |
| ENST00000700634.1:c.*50+2489C>T (PLD3) | ENSP00000515122.1:n.*50+2489C>T | |
| ENST00000291823.3:c.1279G>A (HIPK4) MANE Select | ENSP00000291823.1:p.Asp427Asn | |
| ENST00000291823.2:c.1279G>A (HIPK4) | ENSP00000291823.1:p.Asp427Asn | |
| NM_144685.4:c.1279G>A (HIPK4) | NP_653286.2:p.Asp427Asn | |
| XM_006723036.2:c.1279G>A (HIPK4) | XP_006723099.1:p.Asp427Asn | |
| XM_006723036.3:c.1279G>A (HIPK4) | XP_006723099.1:p.Asp427Asn | |
| NM_144685.5:c.1279G>A (HIPK4) MANE Select | NP_653286.2:p.Asp427Asn |