Linked Data
dbSNP Id:
rs763817712
ExAC:
15:35084248 T / A
gnomAD v2:
15-35084248-T-A
gnomAD v4:
15-34792047-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792047T>A , CM000677.2:g.34792047T>A | GRCh38 |
| NC_000015.9:g.35084248T>A , CM000677.1:g.35084248T>A | GRCh37 |
| NC_000015.8:g.32871540T>A | NCBI36 |
| NG_007553.1:g.8680A>T , LRG_388:g.8680A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.957A>T (ACTC1) | ||
| ENST00000290378.6:c.808+43A>T (ACTC1) MANE Select | ENSP00000290378.4:n.808+43A>T | |
| ENST00000647798.1:n.902+43A>T (ACTC1) | ||
| ENST00000650163.1:n.888+43A>T (ACTC1) | ||
| ENST00000290378.4:c.808+43A>T (ACTC1) | ENSP00000290378.4:n.808+43A>T | |
| ENST00000557860.1:n.498+43A>T (ACTC1) | ||
| ENST00000560563.1:n.350A>T (ACTC1) | ||
| NM_005159.4:c.808+43A>T , LRG_388t1:c.808+43A>T (ACTC1) | NP_005150.1:n.808+43A>T | |
| NR_120329.1:n.299+14616T>A (GJD2-DT) | ||
| NM_005159.5:c.808+43A>T (ACTC1) MANE Select | NP_005150.1:n.808+43A>T |