Linked Data
dbSNP Id:
rs1595760922
gnomAD v4:
15-34792430-A-G
MyVariant Identifiers:
chr15:g.35084631A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34792430A>G , CM000677.2:g.34792430A>G | GRCh38 |
| NC_000015.9:g.35084631A>G , CM000677.1:g.35084631A>G | GRCh37 |
| NC_000015.8:g.32871923A>G | NCBI36 |
| NG_007553.1:g.8297T>C , LRG_388:g.8297T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.700T>C (ACTC1) | ||
| ENST00000290378.6:c.594T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Arg198= | |
| ENST00000647798.1:n.688T>C (ACTC1) | ||
| ENST00000648556.1:n.751T>C (ACTC1) | ||
| ENST00000650163.1:n.674T>C (ACTC1) | ||
| ENST00000290378.4:c.594T>C (ACTC1) | ENSP00000290378.4:p.Arg198= | |
| ENST00000557860.1:n.284T>C (ACTC1) | ||
| ENST00000560563.1:n.93T>C (ACTC1) | ||
| NM_005159.4:c.594T>C , LRG_388t1:c.594T>C (ACTC1) | NP_005150.1:p.Arg198= | |
| NR_120329.1:n.299+14999A>G (GJD2-DT) | ||
| NM_005159.5:c.594T>C (ACTC1) MANE Select | NP_005150.1:p.Arg198= |