Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43126360G= , CM000679.2:g.43126360G= | GRCh38 |
| NC_000017.10:g.41278377G= , CM000679.1:g.41278377G= | GRCh37 |
| NC_000017.9:g.38531903G= | NCBI36 |
| NG_005905.2:g.91624C= , LRG_292:g.91624C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NR_003108.1:n.188+590G= (NBR2) | |
| NR_003108.2:n.214+590G= (NBR2) | |
| NR_138145.1:n.214+590G= (NBR2) | |
| ENST00000356906.7:n.131+590G= (NBR2) | |
| ENST00000460115.5:n.161+590G= (NBR2) | |
| ENST00000467245.5:n.127+590G= (NBR2) | |
| ENST00000634433.1:c.-19-2245C= (BRCA1) | ENSP00000489431.1:n.-19-2245C= |
| ENST00000634433.2:c.-19-2245C= (BRCA1) | ENSP00000489431.2:n.-19-2245C= |