Linked Data
dbSNP Id:
rs946334956
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789787C>G , CM000677.2:g.34789787C>G | GRCh38 |
| NC_000015.9:g.35081988C>G , CM000677.1:g.35081988C>G | GRCh37 |
| NC_000015.8:g.32869280C>G | NCBI36 |
| NG_007553.1:g.10940G>C , LRG_388:g.10940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*625G>C (ACTC1) | ENSP00000290378.4:n.*625G>C | |
| NM_005159.4:c.*625G>C , LRG_388t1:c.*625G>C (ACTC1) | NP_005150.1:n.*625G>C | |
| NR_120329.1:n.299+12356C>G (GJD2-DT) |