Linked Data
ClinVar Variation Id:
2930688
ClinVar RCV Id:
RCV003789998
dbSNP Id:
rs1595761370
MyVariant Identifiers:
chr15:g.35085576T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793375T>A , CM000677.2:g.34793375T>A | GRCh38 |
| NC_000015.9:g.35085576T>A , CM000677.1:g.35085576T>A | GRCh37 |
| NC_000015.8:g.32872868T>A | NCBI36 |
| NG_007553.1:g.7352A>T , LRG_388:g.7352A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.430A>T (ACTC1) | ||
| ENST00000290378.6:c.324A>T (ACTC1) MANE Select | ENSP00000290378.4:p.Thr108= | |
| ENST00000647798.1:n.471A>T (ACTC1) | ||
| ENST00000648556.1:n.481A>T (ACTC1) | ||
| ENST00000650163.1:n.404A>T (ACTC1) | ||
| ENST00000290378.4:c.324A>T (ACTC1) | ENSP00000290378.4:p.Thr108= | |
| NM_005159.4:c.324A>T , LRG_388t1:c.324A>T (ACTC1) | NP_005150.1:p.Thr108= | |
| NR_120329.1:n.299+15944T>A (GJD2-DT) | ||
| NM_005159.5:c.324A>T (ACTC1) MANE Select | NP_005150.1:p.Thr108= |