Linked Data
ClinVar Variation Id:
180775
ClinVar RCV Id:
RCV000157803
dbSNP Id:
rs730880408
gnomAD v4:
15-34794799-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794799C>G , CM000677.2:g.34794799C>G | GRCh38 |
| NC_000015.9:g.35087000C>G , CM000677.1:g.35087000C>G | GRCh37 |
| NC_000015.8:g.32874292C>G | NCBI36 |
| NG_007553.1:g.5928G>C , LRG_388:g.5928G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.116G>C (ACTC1) | ||
| ENST00000290378.6:c.10G>C (ACTC1) MANE Select | ENSP00000290378.4:p.Asp4His | |
| ENST00000290378.4:c.10G>C (ACTC1) | ENSP00000290378.4:p.Asp4His | |
| NM_005159.4:c.10G>C , LRG_388t1:c.10G>C (ACTC1) | NP_005150.1:p.Asp4His | |
| NR_120329.1:n.300-15697C>G (GJD2-DT) | ||
| NM_005159.5:c.10G>C (ACTC1) MANE Select | NP_005150.1:p.Asp4His |