Linked Data
ClinVar Variation Id:
217889
ClinVar RCV Id:
RCV000201940
dbSNP Id:
rs863225303
PubMed:
PMID:9563954
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34791210G>C , CM000677.2:g.34791210G>C | GRCh38 |
| NC_000015.9:g.35083411G>C , CM000677.1:g.35083411G>C | GRCh37 |
| NC_000015.8:g.32870703G>C | NCBI36 |
| NG_007553.1:g.9517C>G , LRG_388:g.9517C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.1794C>G (ACTC1) | ||
| ENST00000290378.6:c.894C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Asn298Lys | |
| ENST00000647798.1:n.988C>G (ACTC1) | ||
| ENST00000650163.1:n.974C>G (ACTC1) | ||
| ENST00000290378.4:c.894C>G (ACTC1) | ENSP00000290378.4:p.Asn298Lys | |
| ENST00000557860.1:n.584C>G (ACTC1) | ||
| NM_005159.4:c.894C>G , LRG_388t1:c.894C>G (ACTC1) | NP_005150.1:p.Asn298Lys | |
| NR_120329.1:n.299+13779G>C (GJD2-DT) | ||
| NM_005159.5:c.894C>G (ACTC1) MANE Select | NP_005150.1:p.Asn298Lys |