Linked Data
gnomAD v4:
15-34790436-G-A
COSMIC:
COSM5546197
MyVariant Identifiers:
chr15:g.35082637G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.34790436G>A , CM000677.2:g.34790436G>A | GRCh38 |
| NC_000015.9:g.35082637G>A , CM000677.1:g.35082637G>A | GRCh37 |
| NC_000015.8:g.32869929G>A | NCBI36 |
| NG_007553.1:g.10291C>T , LRG_388:g.10291C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000560563.2:n.2010C>T (ACTC1) | ||
| ENST00000290378.6:c.1110C>T (ACTC1) MANE Select | ENSP00000290378.4:p.Ser370= | |
| ENST00000647798.1:n.1204C>T (ACTC1) | ||
| ENST00000650163.1:n.1190C>T (ACTC1) | ||
| ENST00000290378.4:c.1110C>T (ACTC1) | ENSP00000290378.4:p.Ser370= | |
| NM_005159.4:c.1110C>T , LRG_388t1:c.1110C>T (ACTC1) | NP_005150.1:p.Ser370= | |
| NR_120329.1:n.299+13005G>A (GJD2-DT) | ||
| NM_005159.5:c.1110C>T (ACTC1) MANE Select | NP_005150.1:p.Ser370= |