Linked Data
ClinVar Variation Id:
1172249
dbSNP Id:
rs756249146
ExAC:
15:35085441 C / G
gnomAD v2:
15-35085441-C-G
gnomAD v4:
15-34793240-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793240C>G , CM000677.2:g.34793240C>G | GRCh38 |
| NC_000015.9:g.35085441C>G , CM000677.1:g.35085441C>G | GRCh37 |
| NC_000015.8:g.32872733C>G | NCBI36 |
| NG_007553.1:g.7487G>C , LRG_388:g.7487G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.560+5G>C (ACTC1) | ||
| ENST00000290378.6:c.454+5G>C (ACTC1) MANE Select | ENSP00000290378.4:n.454+5G>C | |
| ENST00000647798.1:n.548+58G>C (ACTC1) | ||
| ENST00000648556.1:n.611+5G>C (ACTC1) | ||
| ENST00000650163.1:n.534+5G>C (ACTC1) | ||
| ENST00000290378.4:c.454+5G>C (ACTC1) | ENSP00000290378.4:n.454+5G>C | |
| NM_005159.4:c.454+5G>C , LRG_388t1:c.454+5G>C (ACTC1) | NP_005150.1:n.454+5G>C | |
| NR_120329.1:n.299+15809C>G (GJD2-DT) | ||
| NM_005159.5:c.454+5G>C (ACTC1) MANE Select | NP_005150.1:n.454+5G>C |