Linked Data
ClinVar Variation Id:
1157100
ClinVar RCV Id:
RCV001500000
dbSNP Id:
rs769158928
ExAC:
15:35084307 G / A
gnomAD v2:
15-35084307-G-A
gnomAD v3:
15-34792106-G-A
gnomAD v4:
15-34792106-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792106G>A , CM000677.2:g.34792106G>A | GRCh38 |
| NC_000015.9:g.35084307G>A , CM000677.1:g.35084307G>A | GRCh37 |
| NC_000015.8:g.32871599G>A | NCBI36 |
| NG_007553.1:g.8621C>T , LRG_388:g.8621C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.898C>T (ACTC1) | ||
| ENST00000290378.6:c.792C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Phe264= | |
| ENST00000647798.1:n.886C>T (ACTC1) | ||
| ENST00000650163.1:n.872C>T (ACTC1) | ||
| ENST00000290378.4:c.792C>T (ACTC1) | ENSP00000290378.4:p.Phe264= | |
| ENST00000557860.1:n.482C>T (ACTC1) | ||
| ENST00000560563.1:n.291C>T (ACTC1) | ||
| NM_005159.4:c.792C>T , LRG_388t1:c.792C>T (ACTC1) | NP_005150.1:p.Phe264= | |
| NR_120329.1:n.299+14675G>A (GJD2-DT) | ||
| NM_005159.5:c.792C>T (ACTC1) MANE Select | NP_005150.1:p.Phe264= |