Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88934997G= , CM000672.2:g.88934997G= | GRCh38 |
| NC_000010.10:g.90694754G= , CM000672.1:g.90694754G= | GRCh37 |
| NC_000010.9:g.90684734G= | NCBI36 |
| NG_011541.1:g.61394C= , LRG_781:g.61394C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12561G= (STAMBPL1) | ENSP00000360995.3:n.1254+12561G= | |
| NR_125373.1:n.622G= (ACTA2-AS1) |