gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43126360G>C , CM000679.2:g.43126360G>C | GRCh38 |
| NC_000017.10:g.41278377G>C , CM000679.1:g.41278377G>C | GRCh37 |
| NC_000017.9:g.38531903G>C | NCBI36 |
| NG_005905.2:g.91624C>G , LRG_292:g.91624C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000634433.2:c.-19-2245C>G (BRCA1) | ENSP00000489431.2:n.-19-2245C>G | |
| ENST00000356906.7:n.131+590G>C (NBR2) | ||
| ENST00000460115.5:n.161+590G>C (NBR2) | ||
| ENST00000467245.5:n.127+590G>C (NBR2) | ||
| ENST00000634433.1:c.-19-2245C>G (BRCA1) | ENSP00000489431.1:n.-19-2245C>G | |
| NR_003108.1:n.188+590G>C (NBR2) | ||
| NR_003108.2:n.214+590G>C (NBR2) | ||
| NR_138145.1:n.214+590G>C (NBR2) |