Linked Data
dbSNP Id:
rs1595759922
gnomAD v4:
15-34790442-G-C
MyVariant Identifiers:
chr15:g.35082643G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790442G>C , CM000677.2:g.34790442G>C | GRCh38 |
| NC_000015.9:g.35082643G>C , CM000677.1:g.35082643G>C | GRCh37 |
| NC_000015.8:g.32869935G>C | NCBI36 |
| NG_007553.1:g.10285C>G , LRG_388:g.10285C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2004C>G (ACTC1) | ||
| ENST00000290378.6:c.1104C>G (ACTC1) MANE Select | ENSP00000290378.4:p.Gly368= | |
| ENST00000647798.1:n.1198C>G (ACTC1) | ||
| ENST00000650163.1:n.1184C>G (ACTC1) | ||
| ENST00000290378.4:c.1104C>G (ACTC1) | ENSP00000290378.4:p.Gly368= | |
| NM_005159.4:c.1104C>G , LRG_388t1:c.1104C>G (ACTC1) | NP_005150.1:p.Gly368= | |
| NR_120329.1:n.299+13011G>C (GJD2-DT) | ||
| NM_005159.5:c.1104C>G (ACTC1) MANE Select | NP_005150.1:p.Gly368= |