Linked Data
dbSNP Id:
rs1418961993
gnomAD v2:
5-131969891-G-A
gnomAD v3:
5-132634199-G-A
gnomAD v4:
5-132634199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132634199G>A , CM000667.2:g.132634199G>A | GRCh38 |
| NC_000005.9:g.131969891G>A , CM000667.1:g.131969891G>A | GRCh37 |
| NC_000005.8:g.131997790G>A | NCBI36 |
| NG_021151.1:g.82276G>A | |
| NG_021151.2:g.82223G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378823.8:c.3390-2916G>A (RAD50) MANE Select | ENSP00000368100.4:n.3390-2916G>A | |
| ENST00000638452.2:c.3093-2916G>A | ENSP00000492349.2:n.3093-2916G>A | |
| ENST00000638504.1:n.2998-2916G>A | ||
| ENST00000638568.2:c.3093-2916G>A | ENSP00000491158.2:n.3093-2916G>A | |
| ENST00000639899.1:n.3909-2916G>A | ||
| ENST00000640655.2:c.3093-2916G>A | ENSP00000491596.2:n.3093-2916G>A | |
| ENST00000651249.1:c.226-2916G>A (RAD50) | ||
| ENST00000378823.7:c.3390-2916G>A (RAD50) | ENSP00000368100.4:n.3390-2916G>A | |
| ENST00000455677.1:c.25-2916G>A (RAD50) | ||
| ENST00000533482.5:c.*3016-2916G>A (RAD50) | ENSP00000431225.1:n.*3016-2916G>A | |
| NM_005732.3:c.3390-2916G>A (RAD50) | NP_005723.2:n.3390-2916G>A | |
| NR_132124.1:n.154-3308C>T (TH2LCRR) | ||
| NM_005732.4:c.3390-2916G>A (RAD50) MANE Select | NP_005723.2:n.3390-2916G>A |