Linked Data
ClinVar Variation Id:
136280
ClinVar RCV Id:
RCV000123501
RCV000861005
RCV001119487
RCV001177329
RCV001119486
RCV002426675
RCV003997422
dbSNP Id:
rs138812333
ExAC:
15:35085630 G / A
gnomAD v2:
15-35085630-G-A
gnomAD v3:
15-34793429-G-A
gnomAD v4:
15-34793429-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793429G>A , CM000677.2:g.34793429G>A | GRCh38 |
| NC_000015.9:g.35085630G>A , CM000677.1:g.35085630G>A | GRCh37 |
| NC_000015.8:g.32872922G>A | NCBI36 |
| NG_007553.1:g.7298C>T , LRG_388:g.7298C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.376C>T (ACTC1) | ||
| ENST00000290378.6:c.270C>T (ACTC1) MANE Select | ENSP00000290378.4:p.His90= | |
| ENST00000647798.1:n.417C>T (ACTC1) | ||
| ENST00000648556.1:n.427C>T (ACTC1) | ||
| ENST00000650163.1:n.350C>T (ACTC1) | ||
| ENST00000290378.4:c.270C>T (ACTC1) | ENSP00000290378.4:p.His90= | |
| NM_005159.4:c.270C>T , LRG_388t1:c.270C>T (ACTC1) | NP_005150.1:p.His90= | |
| NR_120329.1:n.299+15998G>A (GJD2-DT) | ||
| NM_005159.5:c.270C>T (ACTC1) MANE Select | NP_005150.1:p.His90= |