Linked Data
ClinVar Variation Id:
375700
ClinVar RCV Id:
RCV000489568
dbSNP Id:
rs546603773
ExAC:
19:51295037 C / T
gnomAD v2:
19-51295037-C-T
gnomAD v3:
19-50791780-C-T
gnomAD v4:
19-50791780-C-T
COSMIC:
COSM5782379
PubMed:
PMID:28513613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50791780C>T , CM000681.2:g.50791780C>T | GRCh38 |
| NC_000019.9:g.51295037C>T , CM000681.1:g.51295037C>T | GRCh37 |
| NC_000019.8:g.55986849C>T | NCBI36 |
| NG_052652.1:g.6366C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.428C>T (ACP4) MANE Select | ENSP00000270593.1:p.Thr143Met | |
| ENST00000636757.1:c.-60+625G>A (SMIM47) | ENSP00000489695.1:n.-60+625G>A | |
| ENST00000270593.1:c.428C>T (ACP4) | ENSP00000270593.1:p.Thr143Met | |
| NM_033068.2:c.428C>T (ACP4) | NP_149059.1:p.Thr143Met | |
| XR_936026.1:n.424+625G>A | ||
| XR_936026.2:n.434+625G>A | ||
| NM_033068.3:c.428C>T (ACP4) MANE Select | NP_149059.1:p.Thr143Met |