Linked Data
ClinVar Variation Id:
315697
ClinVar RCV Id:
RCV001690052
dbSNP Id:
rs74009720
gnomAD v2:
15-35082344-G-A
gnomAD v3:
15-34790143-G-A
gnomAD v4:
15-34790143-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790143G>A , CM000677.2:g.34790143G>A | GRCh38 |
| NC_000015.9:g.35082344G>A , CM000677.1:g.35082344G>A | GRCh37 |
| NC_000015.8:g.32869636G>A | NCBI36 |
| NG_007553.1:g.10584C>T , LRG_388:g.10584C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2303C>T (ACTC1) | ||
| ENST00000290378.4:c.*269C>T (ACTC1) | ENSP00000290378.4:n.*269C>T | |
| NM_005159.4:c.*269C>T , LRG_388t1:c.*269C>T (ACTC1) | NP_005150.1:n.*269C>T | |
| NR_120329.1:n.299+12712G>A (GJD2-DT) |