Linked Data
dbSNP Id:
rs548256827
gnomAD v2:
15-35086702-C-G
gnomAD v3:
15-34794501-C-G
gnomAD v4:
15-34794501-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794501C>G , CM000677.2:g.34794501C>G | GRCh38 |
| NC_000015.9:g.35086702C>G , CM000677.1:g.35086702C>G | GRCh37 |
| NC_000015.8:g.32873994C>G | NCBI36 |
| NG_007553.1:g.6226G>C , LRG_388:g.6226G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.235+179G>C (ACTC1) | ||
| ENST00000290378.6:c.129+179G>C (ACTC1) MANE Select | ENSP00000290378.4:n.129+179G>C | |
| ENST00000290378.4:c.129+179G>C (ACTC1) | ENSP00000290378.4:n.129+179G>C | |
| NM_005159.4:c.129+179G>C , LRG_388t1:c.129+179G>C (ACTC1) | NP_005150.1:n.129+179G>C | |
| NR_120329.1:n.300-15995C>G (GJD2-DT) | ||
| NM_005159.5:c.129+179G>C (ACTC1) MANE Select | NP_005150.1:n.129+179G>C |