Linked Data
dbSNP Id:
rs181013324
ExAC:
15:35086860 G / C
gnomAD v2:
15-35086860-G-C
gnomAD v3:
15-34794659-G-C
gnomAD v4:
15-34794659-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794659G>C , CM000677.2:g.34794659G>C | GRCh38 |
| NC_000015.9:g.35086860G>C , CM000677.1:g.35086860G>C | GRCh37 |
| NC_000015.8:g.32874152G>C | NCBI36 |
| NG_007553.1:g.6068C>G , LRG_388:g.6068C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.235+21C>G (ACTC1) | ||
| ENST00000290378.6:c.129+21C>G (ACTC1) MANE Select | ENSP00000290378.4:n.129+21C>G | |
| ENST00000290378.4:c.129+21C>G (ACTC1) | ENSP00000290378.4:n.129+21C>G | |
| NM_005159.4:c.129+21C>G , LRG_388t1:c.129+21C>G (ACTC1) | NP_005150.1:n.129+21C>G | |
| NR_120329.1:n.300-15837G>C (GJD2-DT) | ||
| NM_005159.5:c.129+21C>G (ACTC1) MANE Select | NP_005150.1:n.129+21C>G |