Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.28707823G>A , CM000665.2:g.28707823G>A | GRCh38 |
| NC_000003.11:g.28749314G>A , CM000665.1:g.28749314G>A | GRCh37 |
| NC_000003.10:g.28724318G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432518.6:n.810-48935G>A | ||
| ENST00000443912.5:n.87-28186G>A | ||
| ENST00000445077.1:n.70-49286G>A | ||
| ENST00000635992.1:c.*339+131327G>A | ENSP00000489994.1:n.*339+131327G>A | |
| ENST00000636680.2:c.213+131327G>A (RBMS3) | ENSP00000490271.2:n.213+131327G>A | |
| NR_038840.1:n.323-48935G>A (LINC00693) |