Linked Data
ClinVar Variation Id:
1470228
ClinVar RCV Id:
RCV001973211
dbSNP Id:
rs2140428937
gnomAD v4:
15-34790446-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790446G>C , CM000677.2:g.34790446G>C | GRCh38 |
| NC_000015.9:g.35082647G>C , CM000677.1:g.35082647G>C | GRCh37 |
| NC_000015.8:g.32869939G>C | NCBI36 |
| NG_007553.1:g.10281C>G , LRG_388:g.10281C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2000C>G (ACTC1) | ||
| ENST00000290378.6:c.1100C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Ala367Gly | |
| ENST00000647798.1:n.1194C>G (ACTC1) | ||
| ENST00000650163.1:n.1180C>G (ACTC1) | ||
| ENST00000290378.4:c.1100C>G (ACTC1) | ENSP00000290378.4:p.Ala367Gly | |
| NM_005159.4:c.1100C>G , LRG_388t1:c.1100C>G (ACTC1) | NP_005150.1:p.Ala367Gly | |
| NR_120329.1:n.299+13015G>C (GJD2-DT) | ||
| NM_005159.5:c.1100C>G (ACTC1) MANE Select | NP_005150.1:p.Ala367Gly |