Linked Data
ClinVar Variation Id:
315654
ClinVar RCV Id:
RCV001718647
dbSNP Id:
rs112660730
gnomAD v2:
15-35080939-G-A
gnomAD v3:
15-34788738-G-A
gnomAD v4:
15-34788738-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34788738G>A , CM000677.2:g.34788738G>A | GRCh38 |
| NC_000015.9:g.35080939G>A , CM000677.1:g.35080939G>A | GRCh37 |
| NC_000015.8:g.32868231G>A | NCBI36 |
| NG_007553.1:g.11989C>T , LRG_388:g.11989C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290378.4:c.*1674C>T (ACTC1) | ENSP00000290378.4:n.*1674C>T | |
| NM_005159.4:c.*1674C>T , LRG_388t1:c.*1674C>T (ACTC1) | NP_005150.1:n.*1674C>T | |
| NR_120329.1:n.299+11307G>A (GJD2-DT) |