Linked Data
ClinVar Variation Id:
538807
ClinVar RCV Id:
RCV000648298
dbSNP Id:
rs768526036
gnomAD v4:
15-34794797-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794797G>T , CM000677.2:g.34794797G>T | GRCh38 |
| NC_000015.9:g.35086998G>T , CM000677.1:g.35086998G>T | GRCh37 |
| NC_000015.8:g.32874290G>T | NCBI36 |
| NG_007553.1:g.5930C>A , LRG_388:g.5930C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.118C>A (ACTC1) | ||
| ENST00000290378.6:c.12C>A (ACTC1) MANE Select | ENSP00000290378.4:p.Asp4Glu | |
| ENST00000290378.4:c.12C>A (ACTC1) | ENSP00000290378.4:p.Asp4Glu | |
| NM_005159.4:c.12C>A , LRG_388t1:c.12C>A (ACTC1) | NP_005150.1:p.Asp4Glu | |
| NR_120329.1:n.300-15699G>T (GJD2-DT) | ||
| NM_005159.5:c.12C>A (ACTC1) MANE Select | NP_005150.1:p.Asp4Glu |