Linked Data
dbSNP Id:
rs374736519
gnomAD v2:
15-35081764-C-T
gnomAD v3:
15-34789563-C-T
gnomAD v4:
15-34789563-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789563C>T , CM000677.2:g.34789563C>T | GRCh38 |
| NC_000015.9:g.35081764C>T , CM000677.1:g.35081764C>T | GRCh37 |
| NC_000015.8:g.32869056C>T | NCBI36 |
| NG_007553.1:g.11164G>A , LRG_388:g.11164G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*849G>A (ACTC1) | ENSP00000290378.4:n.*849G>A | |
| NM_005159.4:c.*849G>A , LRG_388t1:c.*849G>A (ACTC1) | NP_005150.1:n.*849G>A | |
| NR_120329.1:n.299+12132C>T (GJD2-DT) |