Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935045G>A , CM000672.2:g.88935045G>A | GRCh38 |
| NC_000010.10:g.90694802G>A , CM000672.1:g.90694802G>A | GRCh37 |
| NC_000010.9:g.90684782G>A | NCBI36 |
| NG_011541.1:g.61346C>T , LRG_781:g.61346C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12609G>A (STAMBPL1) | ENSP00000360995.3:n.1254+12609G>A | |
| NR_125373.1:n.670G>A (ACTA2-AS1) |