Linked Data
ClinVar Variation Id:
629633
ClinVar RCV Id:
RCV001615053
dbSNP Id:
rs1335305223
gnomAD v2:
15-35085582-C-T
gnomAD v4:
15-34793381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793381C>T , CM000677.2:g.34793381C>T | GRCh38 |
| NC_000015.9:g.35085582C>T , CM000677.1:g.35085582C>T | GRCh37 |
| NC_000015.8:g.32872874C>T | NCBI36 |
| NG_007553.1:g.7346G>A , LRG_388:g.7346G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.424G>A (ACTC1) | ||
| ENST00000290378.6:c.318G>A (ACTC1) MANE Select | ENSP00000290378.4:p.Leu106= | |
| ENST00000647798.1:n.465G>A (ACTC1) | ||
| ENST00000648556.1:n.475G>A (ACTC1) | ||
| ENST00000650163.1:n.398G>A (ACTC1) | ||
| ENST00000290378.4:c.318G>A (ACTC1) | ENSP00000290378.4:p.Leu106= | |
| NM_005159.4:c.318G>A , LRG_388t1:c.318G>A (ACTC1) | NP_005150.1:p.Leu106= | |
| NR_120329.1:n.299+15950C>T (GJD2-DT) | ||
| NM_005159.5:c.318G>A (ACTC1) MANE Select | NP_005150.1:p.Leu106= |