Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935035G>T , CM000672.2:g.88935035G>T | GRCh38 |
| NC_000010.10:g.90694792G>T , CM000672.1:g.90694792G>T | GRCh37 |
| NC_000010.9:g.90684772G>T | NCBI36 |
| NG_011541.1:g.61356C>A , LRG_781:g.61356C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12599G>T (STAMBPL1) | ENSP00000360995.3:n.1254+12599G>T | |
| NR_125373.1:n.660G>T (ACTA2-AS1) |