Linked Data
dbSNP Id:
rs2140432184
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793509dup , CM000677.2:g.34793509dup | GRCh38 |
| NC_000015.9:g.35085710dup , CM000677.1:g.35085710dup | GRCh37 |
| NC_000015.8:g.32873002dup | NCBI36 |
| NG_007553.1:g.7218dup , LRG_388:g.7218dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.296dup (ACTC1) | ||
| ENST00000290378.6:c.190dup (ACTC1) MANE Select | ENSP00000290378.4:p.Arg64LysfsTer? | |
| ENST00000647798.1:n.337dup (ACTC1) | ||
| ENST00000648556.1:n.347dup (ACTC1) | ||
| ENST00000650163.1:n.270dup (ACTC1) | ||
| ENST00000290378.4:c.190dup (ACTC1) | ENSP00000290378.4:p.Arg64LysfsTer? | |
| NM_005159.4:c.190dup , LRG_388t1:c.190dup (ACTC1) | NP_005150.1:p.Arg64LysfsTer? | |
| NR_120329.1:n.299+16078dup (GJD2-DT) | ||
| NM_005159.5:c.190dup (ACTC1) MANE Select | NP_005150.1:p.Arg64LysfsTer? |