Linked Data
ClinVar Variation Id:
1122603
ClinVar RCV Id:
RCV001453310
dbSNP Id:
rs755858258
ExAC:
15:35085723 T / C
gnomAD v2:
15-35085723-T-C
gnomAD v4:
15-34793522-T-C
COSMIC:
COSM6332238
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793522T>C , CM000677.2:g.34793522T>C | GRCh38 |
| NC_000015.9:g.35085723T>C , CM000677.1:g.35085723T>C | GRCh37 |
| NC_000015.8:g.32873015T>C | NCBI36 |
| NG_007553.1:g.7205A>G , LRG_388:g.7205A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.283A>G (ACTC1) | ||
| ENST00000290378.6:c.177A>G (ACTC1) MANE Select | ENSP00000290378.4:p.Glu59= | |
| ENST00000647798.1:n.324A>G (ACTC1) | ||
| ENST00000648556.1:n.334A>G (ACTC1) | ||
| ENST00000650163.1:n.257A>G (ACTC1) | ||
| ENST00000290378.4:c.177A>G (ACTC1) | ENSP00000290378.4:p.Glu59= | |
| NM_005159.4:c.177A>G , LRG_388t1:c.177A>G (ACTC1) | NP_005150.1:p.Glu59= | |
| NR_120329.1:n.299+16091T>C (GJD2-DT) | ||
| NM_005159.5:c.177A>G (ACTC1) MANE Select | NP_005150.1:p.Glu59= |