Linked Data
ClinVar Variation Id:
374864
ClinVar RCV Id:
RCV000415588
dbSNP Id:
rs1057519277
gnomAD v2:
19-51294040-C-T
gnomAD v3:
19-50790783-C-T
gnomAD v4:
19-50790783-C-T
PubMed:
PMID:27843125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50790783C>T , CM000681.2:g.50790783C>T | GRCh38 |
| NC_000019.9:g.51294040C>T , CM000681.1:g.51294040C>T | GRCh37 |
| NC_000019.8:g.55985852C>T | NCBI36 |
| NG_052652.1:g.5369C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270593.2:c.226C>T (ACP4) MANE Select | ENSP00000270593.1:p.Arg76Cys | |
| ENST00000636757.1:c.-59-1068G>A (SMIM47) | ENSP00000489695.1:n.-59-1068G>A | |
| ENST00000270593.1:c.226C>T (ACP4) | ENSP00000270593.1:p.Arg76Cys | |
| NM_033068.2:c.226C>T (ACP4) | NP_149059.1:p.Arg76Cys | |
| XR_936026.1:n.425-1068G>A | ||
| XR_936026.2:n.435-1068G>A | ||
| NM_033068.3:c.226C>T (ACP4) MANE Select | NP_149059.1:p.Arg76Cys |