Linked Data
dbSNP Id:
rs1370155
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789940A>C , CM000677.2:g.34789940A>C | GRCh38 |
| NC_000015.9:g.35082141A>C , CM000677.1:g.35082141A>C | GRCh37 |
| NC_000015.8:g.32869433A>C | NCBI36 |
| NG_007553.1:g.10787T>G , LRG_388:g.10787T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*472T>G (ACTC1) | ENSP00000290378.4:n.*472T>G | |
| NM_005159.4:c.*472T>G , LRG_388t1:c.*472T>G (ACTC1) | NP_005150.1:n.*472T>G | |
| NR_120329.1:n.299+12509A>C (GJD2-DT) |