Linked Data
gnomAD v4:
15-34794649-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34794649A>C , CM000677.2:g.34794649A>C | GRCh38 |
| NC_000015.9:g.35086850A>C , CM000677.1:g.35086850A>C | GRCh37 |
| NC_000015.8:g.32874142A>C | NCBI36 |
| NG_007553.1:g.6078T>G , LRG_388:g.6078T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.235+31T>G (ACTC1) | ||
| ENST00000290378.6:c.129+31T>G (ACTC1) MANE Select | ENSP00000290378.4:n.129+31T>G | |
| ENST00000290378.4:c.129+31T>G (ACTC1) | ENSP00000290378.4:n.129+31T>G | |
| NM_005159.4:c.129+31T>G , LRG_388t1:c.129+31T>G (ACTC1) | NP_005150.1:n.129+31T>G | |
| NR_120329.1:n.300-15847A>C (GJD2-DT) | ||
| NM_005159.5:c.129+31T>G (ACTC1) MANE Select | NP_005150.1:n.129+31T>G |