Linked Data
dbSNP Id:
rs2140428182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34789473A>C , CM000677.2:g.34789473A>C | GRCh38 |
| NC_000015.9:g.35081674A>C , CM000677.1:g.35081674A>C | GRCh37 |
| NC_000015.8:g.32868966A>C | NCBI36 |
| NG_007553.1:g.11254T>G , LRG_388:g.11254T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290378.4:c.*939T>G (ACTC1) | ENSP00000290378.4:n.*939T>G | |
| NM_005159.4:c.*939T>G , LRG_388t1:c.*939T>G (ACTC1) | NP_005150.1:n.*939T>G | |
| NR_120329.1:n.299+12042A>C (GJD2-DT) |