Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40098934G= , CM000679.2:g.40098934G= | GRCh38 |
| NC_000017.10:g.38255187G= , CM000679.1:g.38255187G= | GRCh37 |
| NC_000017.9:g.35508713G= | NCBI36 |
| NG_033084.1:g.6792C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246672.4:c.31+1130C= MANE Select | ENSP00000246672.3:n.31+1130C= | |
| ENST00000246672.3:c.31+1130C= | ENSP00000246672.3:n.31+1130C= | |
| NM_021724.4:c.31+1130C= | NP_068370.1:n.31+1130C= | |
| NM_021724.5:c.31+1130C= MANE Select | NP_068370.1:n.31+1130C= |