Linked Data
dbSNP Id:
rs555107579
ExAC:
15:35085465 A / G
gnomAD v2:
15-35085465-A-G
gnomAD v3:
15-34793264-A-G
gnomAD v4:
15-34793264-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793264A>G , CM000677.2:g.34793264A>G | GRCh38 |
| NC_000015.9:g.35085465A>G , CM000677.1:g.35085465A>G | GRCh37 |
| NC_000015.8:g.32872757A>G | NCBI36 |
| NG_007553.1:g.7463T>C , LRG_388:g.7463T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.541T>C (ACTC1) | ||
| ENST00000290378.6:c.435T>C (ACTC1) MANE Select | ENSP00000290378.4:p.Tyr145= | |
| ENST00000647798.1:n.548+34T>C (ACTC1) | ||
| ENST00000648556.1:n.592T>C (ACTC1) | ||
| ENST00000650163.1:n.515T>C (ACTC1) | ||
| ENST00000290378.4:c.435T>C (ACTC1) | ENSP00000290378.4:p.Tyr145= | |
| NM_005159.4:c.435T>C , LRG_388t1:c.435T>C (ACTC1) | NP_005150.1:p.Tyr145= | |
| NR_120329.1:n.299+15833A>G (GJD2-DT) | ||
| NM_005159.5:c.435T>C (ACTC1) MANE Select | NP_005150.1:p.Tyr145= |