Linked Data
dbSNP Id:
rs374252209
ExAC:
15:35082568 A / G
gnomAD v2:
15-35082568-A-G
gnomAD v3:
15-34790367-A-G
gnomAD v4:
15-34790367-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790367A>G , CM000677.2:g.34790367A>G | GRCh38 |
| NC_000015.9:g.35082568A>G , CM000677.1:g.35082568A>G | GRCh37 |
| NC_000015.8:g.32869860A>G | NCBI36 |
| NG_007553.1:g.10360T>C , LRG_388:g.10360T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2079T>C (ACTC1) | ||
| ENST00000290378.6:c.*45T>C (ACTC1) MANE Select | ENSP00000290378.4:n.*45T>C | |
| ENST00000647798.1:n.1273T>C (ACTC1) | ||
| ENST00000650163.1:n.1259T>C (ACTC1) | ||
| ENST00000290378.4:c.*45T>C (ACTC1) | ENSP00000290378.4:n.*45T>C | |
| NM_005159.4:c.*45T>C , LRG_388t1:c.*45T>C (ACTC1) | NP_005150.1:n.*45T>C | |
| NR_120329.1:n.299+12936A>G (GJD2-DT) | ||
| NM_005159.5:c.*45T>C (ACTC1) MANE Select | NP_005150.1:n.*45T>C |