Linked Data
dbSNP Id:
rs764208251
ExAC:
15:35085640 A / C
gnomAD v2:
15-35085640-A-C
gnomAD v4:
15-34793439-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34793439A>C , CM000677.2:g.34793439A>C | GRCh38 |
| NC_000015.9:g.35085640A>C , CM000677.1:g.35085640A>C | GRCh37 |
| NC_000015.8:g.32872932A>C | NCBI36 |
| NG_007553.1:g.7288T>G , LRG_388:g.7288T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560563.2:n.366T>G (ACTC1) | ||
| ENST00000290378.6:c.260T>G (ACTC1) MANE Select | ENSP00000290378.4:p.Ile87Ser | |
| ENST00000647798.1:n.407T>G (ACTC1) | ||
| ENST00000648556.1:n.417T>G (ACTC1) | ||
| ENST00000650163.1:n.340T>G (ACTC1) | ||
| ENST00000290378.4:c.260T>G (ACTC1) | ENSP00000290378.4:p.Ile87Ser | |
| NM_005159.4:c.260T>G , LRG_388t1:c.260T>G (ACTC1) | NP_005150.1:p.Ile87Ser | |
| NR_120329.1:n.299+16008A>C (GJD2-DT) | ||
| NM_005159.5:c.260T>G (ACTC1) MANE Select | NP_005150.1:p.Ile87Ser |