Linked Data
gnomAD v4:
15-34790115-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790115C>A , CM000677.2:g.34790115C>A | GRCh38 |
| NC_000015.9:g.35082316C>A , CM000677.1:g.35082316C>A | GRCh37 |
| NC_000015.8:g.32869608C>A | NCBI36 |
| NG_007553.1:g.10612G>T , LRG_388:g.10612G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.2331G>T (ACTC1) | ||
| ENST00000290378.4:c.*297G>T (ACTC1) | ENSP00000290378.4:n.*297G>T | |
| NM_005159.4:c.*297G>T , LRG_388t1:c.*297G>T (ACTC1) | NP_005150.1:n.*297G>T | |
| NR_120329.1:n.299+12684C>A (GJD2-DT) |