Linked Data
ClinVar Variation Id:
45181
dbSNP Id:
rs145023222
ExAC:
15:35084712 G / A
gnomAD v2:
15-35084712-G-A
gnomAD v3:
15-34792511-G-A
gnomAD v4:
15-34792511-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792511G>A , CM000677.2:g.34792511G>A | GRCh38 |
| NC_000015.9:g.35084712G>A , CM000677.1:g.35084712G>A | GRCh37 |
| NC_000015.8:g.32872004G>A | NCBI36 |
| NG_007553.1:g.8216C>T , LRG_388:g.8216C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.619C>T (ACTC1) | ||
| ENST00000290378.6:c.513C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr171= | |
| ENST00000647798.1:n.607C>T (ACTC1) | ||
| ENST00000648556.1:n.670C>T (ACTC1) | ||
| ENST00000650163.1:n.593C>T (ACTC1) | ||
| ENST00000290378.4:c.513C>T (ACTC1) | ENSP00000290378.4:p.Tyr171= | |
| ENST00000557860.1:n.203C>T (ACTC1) | ||
| ENST00000560563.1:n.12C>T (ACTC1) | ||
| NM_005159.4:c.513C>T , LRG_388t1:c.513C>T (ACTC1) | NP_005150.1:p.Tyr171= | |
| NR_120329.1:n.299+15080G>A (GJD2-DT) | ||
| NM_005159.5:c.513C>T (ACTC1) MANE Select | NP_005150.1:p.Tyr171= |