Linked Data
gnomAD v4:
15-34790393-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790393G>T , CM000677.2:g.34790393G>T | GRCh38 |
| NC_000015.9:g.35082594G>T , CM000677.1:g.35082594G>T | GRCh37 |
| NC_000015.8:g.32869886G>T | NCBI36 |
| NG_007553.1:g.10334C>A , LRG_388:g.10334C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2053C>A (ACTC1) | ||
| ENST00000290378.6:c.*19C>A (ACTC1) MANE Select | ENSP00000290378.4:n.*19C>A | |
| ENST00000647798.1:n.1247C>A (ACTC1) | ||
| ENST00000650163.1:n.1233C>A (ACTC1) | ||
| ENST00000290378.4:c.*19C>A (ACTC1) | ENSP00000290378.4:n.*19C>A | |
| NM_005159.4:c.*19C>A , LRG_388t1:c.*19C>A (ACTC1) | NP_005150.1:n.*19C>A | |
| NR_120329.1:n.299+12962G>T (GJD2-DT) | ||
| NM_005159.5:c.*19C>A (ACTC1) MANE Select | NP_005150.1:n.*19C>A |