gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.39997907 (EAS)
Genomes Max Group AF
0.39115003 (EAS)
Exomes Max Group AF
0.39943678 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89934373T>G , CM000670.2:g.89934373T>G | GRCh38 |
| NC_000008.10:g.90946601T>G , CM000670.1:g.90946601T>G | GRCh37 |
| NC_000008.9:g.91015777T>G | NCBI36 |
| NG_008860.1:g.55299A>C , LRG_158:g.55299A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.4894A>C (NBN) | ||
| ENST00000494804.2:n.4776A>C (NBN) | ||
| ENST00000517337.2:c.*1209A>C (NBN) | ENSP00000429971.2:n.*1209A>C | |
| ENST00000523444.2:c.*1209A>C (NBN) | ENSP00000428252.2:n.*1209A>C | |
| ENST00000697292.1:c.*38+1171A>C (NBN) | ENSP00000513229.1:n.*38+1171A>C | |
| ENST00000697293.1:c.*1209A>C (NBN) | ENSP00000513230.1:n.*1209A>C | |
| ENST00000697294.1:c.*3085A>C (NBN) | ENSP00000513231.1:n.*3085A>C | |
| ENST00000697295.1:c.*2783A>C (NBN) | ENSP00000513232.1:n.*2783A>C | |
| ENST00000697296.1:c.*3142A>C (NBN) | ENSP00000513233.1:n.*3142A>C | |
| ENST00000697297.1:n.5259A>C (NBN) | ||
| ENST00000697298.1:c.*1209A>C (NBN) | ENSP00000513234.1:n.*1209A>C | |
| ENST00000697299.1:c.*1209A>C (NBN) | ENSP00000513235.1:n.*1209A>C | |
| ENST00000697300.1:c.*3078A>C (NBN) | ENSP00000513236.1:n.*3078A>C | |
| ENST00000697301.1:c.*2995A>C (NBN) | ENSP00000513237.1:n.*2995A>C | |
| ENST00000697302.1:c.*2995A>C (NBN) | ENSP00000513238.1:n.*2995A>C | |
| ENST00000697303.1:c.*3078A>C (NBN) | ENSP00000513239.1:n.*3078A>C | |
| ENST00000697304.1:c.*1209A>C (NBN) | ENSP00000513240.1:n.*1209A>C | |
| ENST00000697305.1:n.3741A>C (NBN) | ||
| ENST00000697306.1:c.*4025A>C (NBN) | ENSP00000513241.1:n.*4025A>C | |
| ENST00000697307.1:c.*1209A>C (NBN) | ENSP00000513242.1:n.*1209A>C | |
| ENST00000697308.1:c.*1209A>C (NBN) | ENSP00000513243.1:n.*1209A>C | |
| ENST00000697309.1:c.*1075A>C (NBN) | ENSP00000513244.1:n.*1075A>C | |
| ENST00000697310.1:c.*706A>C (NBN) | ENSP00000513245.1:n.*706A>C | |
| ENST00000697311.1:c.*1739A>C (NBN) | ENSP00000513246.1:n.*1739A>C | |
| ENST00000697312.1:c.*2927A>C (NBN) | ENSP00000513247.1:n.*2927A>C | |
| ENST00000697313.1:n.3927A>C (NBN) | ||
| ENST00000265433.8:c.*1209A>C (NBN) MANE Select | ENSP00000265433.4:n.*1209A>C | |
| ENST00000265433.7:c.*1209A>C (NBN) | ENSP00000265433.3:n.*1209A>C | |
| ENST00000396252.6:c.*3347A>C (NBN) | ENSP00000379551.2:n.*3347A>C | |
| ENST00000409330.5:c.*1209A>C (NBN) | ENSP00000386924.1:n.*1209A>C | |
| NM_001024688.2:c.*1209A>C (NBN) | NP_001019859.1:n.*1209A>C | |
| NM_002485.4:c.*1209A>C , LRG_158t1:c.*1209A>C (NBN) | NP_002476.2:n.*1209A>C | |
| XM_011517044.1:c.*1209A>C (NBN) | XP_011515346.1:n.*1209A>C | |
| XM_011517045.1:c.*1209A>C (NBN) | XP_011515347.1:n.*1209A>C | |
| XM_011517287.3:c.*8841T>G (OSGIN2) | XP_011515589.1:n.*8841T>G | |
| XM_011517288.3:c.*8841T>G (OSGIN2) | XP_011515590.1:n.*8841T>G | |
| XM_017013460.1:c.*1209A>C (NBN) | XP_016868949.1:n.*1209A>C | |
| XM_017013462.2:c.*1209A>C (NBN) | XP_016868951.1:n.*1209A>C | |
| XM_024447163.1:c.*1209A>C (NBN) | XP_024302931.1:n.*1209A>C | |
| XM_024447164.1:c.*1209A>C (NBN) | XP_024302932.1:n.*1209A>C | |
| XM_024447165.1:c.*1209A>C (NBN) | XP_024302933.1:n.*1209A>C | |
| NM_002485.5:c.*1209A>C (NBN) MANE Select | NP_002476.2:n.*1209A>C | |
| NM_001024688.3:c.*1209A>C (NBN) | NP_001019859.1:n.*1209A>C |