Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88934946C= , CM000672.2:g.88934946C= | GRCh38 |
| NC_000010.10:g.90694703C= , CM000672.1:g.90694703C= | GRCh37 |
| NC_000010.9:g.90684683C= | NCBI36 |
| NG_011541.1:g.61445G= , LRG_781:g.61445G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12510C= (STAMBPL1) | ENSP00000360995.3:n.1254+12510C= | |
| NR_125373.1:n.571C= (ACTA2-AS1) |