Linked Data
ClinVar Variation Id:
1332130
dbSNP Id:
rs371940910
ExAC:
15:35084343 A / G
gnomAD v2:
15-35084343-A-G
gnomAD v3:
15-34792142-A-G
gnomAD v4:
15-34792142-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792142A>G , CM000677.2:g.34792142A>G | GRCh38 |
| NC_000015.9:g.35084343A>G , CM000677.1:g.35084343A>G | GRCh37 |
| NC_000015.8:g.32871635A>G | NCBI36 |
| NG_007553.1:g.8585T>C , LRG_388:g.8585T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.862T>C (ACTC1) | ||
| ENST00000290378.6:c.756T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Ile252= | |
| ENST00000647798.1:n.850T>C (ACTC1) | ||
| ENST00000650163.1:n.836T>C (ACTC1) | ||
| ENST00000290378.4:c.756T>C (ACTC1) | ENSP00000290378.4:p.Ile252= | |
| ENST00000557860.1:n.446T>C (ACTC1) | ||
| ENST00000560563.1:n.255T>C (ACTC1) | ||
| NM_005159.4:c.756T>C , LRG_388t1:c.756T>C (ACTC1) | NP_005150.1:p.Ile252= | |
| NR_120329.1:n.299+14711A>G (GJD2-DT) | ||
| NM_005159.5:c.756T>C (ACTC1) MANE Select | NP_005150.1:p.Ile252= |