Linked Data
ClinVar Variation Id:
509022
ClinVar RCV Id:
RCV000611399
dbSNP Id:
rs199947846
gnomAD v4:
15-34792265-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792265G>T , CM000677.2:g.34792265G>T | GRCh38 |
| NC_000015.9:g.35084466G>T , CM000677.1:g.35084466G>T | GRCh37 |
| NC_000015.8:g.32871758G>T | NCBI36 |
| NG_007553.1:g.8462C>A , LRG_388:g.8462C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.739C>A (ACTC1) | ||
| ENST00000290378.6:c.633C>A (ACTC1) MANE Select | ENSP00000290378.4:p.Val211= | |
| ENST00000647798.1:n.727C>A (ACTC1) | ||
| ENST00000648556.1:n.790C>A (ACTC1) | ||
| ENST00000650163.1:n.713C>A (ACTC1) | ||
| ENST00000290378.4:c.633C>A (ACTC1) | ENSP00000290378.4:p.Val211= | |
| ENST00000557860.1:n.323C>A (ACTC1) | ||
| ENST00000560563.1:n.132C>A (ACTC1) | ||
| NM_005159.4:c.633C>A , LRG_388t1:c.633C>A (ACTC1) | NP_005150.1:p.Val211= | |
| NR_120329.1:n.299+14834G>T (GJD2-DT) | ||
| NM_005159.5:c.633C>A (ACTC1) MANE Select | NP_005150.1:p.Val211= |