Linked Data
ClinVar Variation Id:
2625262
ClinVar RCV Id:
RCV003380021
dbSNP Id:
rs1441829438
gnomAD v2:
15-35085675-A-G
gnomAD v4:
15-34793474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793474A>G , CM000677.2:g.34793474A>G | GRCh38 |
| NC_000015.9:g.35085675A>G , CM000677.1:g.35085675A>G | GRCh37 |
| NC_000015.8:g.32872967A>G | NCBI36 |
| NG_007553.1:g.7253T>C , LRG_388:g.7253T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.331T>C (ACTC1) | ||
| ENST00000290378.6:c.225T>C (ACTC1) MANE Select | ENSP00000290378.4:p.His75= | |
| ENST00000647798.1:n.372T>C (ACTC1) | ||
| ENST00000648556.1:n.382T>C (ACTC1) | ||
| ENST00000650163.1:n.305T>C (ACTC1) | ||
| ENST00000290378.4:c.225T>C (ACTC1) | ENSP00000290378.4:p.His75= | |
| NM_005159.4:c.225T>C , LRG_388t1:c.225T>C (ACTC1) | NP_005150.1:p.His75= | |
| NR_120329.1:n.299+16043A>G (GJD2-DT) | ||
| NM_005159.5:c.225T>C (ACTC1) MANE Select | NP_005150.1:p.His75= |