Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88935003A>G , CM000672.2:g.88935003A>G | GRCh38 |
| NC_000010.10:g.90694760A>G , CM000672.1:g.90694760A>G | GRCh37 |
| NC_000010.9:g.90684740A>G | NCBI36 |
| NG_011541.1:g.61388T>C , LRG_781:g.61388T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12567A>G (STAMBPL1) | ENSP00000360995.3:n.1254+12567A>G | |
| NR_125373.1:n.628A>G (ACTA2-AS1) |