Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.88934996G>T , CM000672.2:g.88934996G>T | GRCh38 |
| NC_000010.10:g.90694753G>T , CM000672.1:g.90694753G>T | GRCh37 |
| NC_000010.9:g.90684733G>T | NCBI36 |
| NG_011541.1:g.61395C>A , LRG_781:g.61395C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371927.7:c.1254+12560G>T (STAMBPL1) | ENSP00000360995.3:n.1254+12560G>T | |
| NR_125373.1:n.621G>T (ACTA2-AS1) |