Linked Data
dbSNP Id:
rs6871536
gnomAD v2:
5-131969874-T-C
gnomAD v3:
5-132634182-T-C
gnomAD v4:
5-132634182-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132634182T>C , CM000667.2:g.132634182T>C | GRCh38 |
| NC_000005.9:g.131969874T>C , CM000667.1:g.131969874T>C | GRCh37 |
| NC_000005.8:g.131997773T>C | NCBI36 |
| NG_021151.1:g.82259T>C | |
| NG_021151.2:g.82206T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3390-2933T>C (RAD50) MANE Select | ENSP00000368100.4:n.3390-2933T>C | |
| ENST00000638452.2:c.3093-2933T>C | ENSP00000492349.2:n.3093-2933T>C | |
| ENST00000638504.1:n.2998-2933T>C | ||
| ENST00000638568.2:c.3093-2933T>C | ENSP00000491158.2:n.3093-2933T>C | |
| ENST00000639899.1:n.3909-2933T>C | ||
| ENST00000640655.2:c.3093-2933T>C | ENSP00000491596.2:n.3093-2933T>C | |
| ENST00000651249.1:c.226-2933T>C (RAD50) | ||
| ENST00000378823.7:c.3390-2933T>C (RAD50) | ENSP00000368100.4:n.3390-2933T>C | |
| ENST00000455677.1:c.25-2933T>C (RAD50) | ||
| ENST00000533482.5:c.*3016-2933T>C (RAD50) | ENSP00000431225.1:n.*3016-2933T>C | |
| NM_005732.3:c.3390-2933T>C (RAD50) | NP_005723.2:n.3390-2933T>C | |
| NR_132124.1:n.154-3291A>G (TH2LCRR) | ||
| NM_005732.4:c.3390-2933T>C (RAD50) MANE Select | NP_005723.2:n.3390-2933T>C |