gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00633174 (NFE)
Genomes Max Group AF
0.00660703 (NFE)
Exomes Max Group AF
0.00576404 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935181G>C , CM000670.2:g.89935181G>C | GRCh38 |
| NC_000008.10:g.90947409G>C , CM000670.1:g.90947409G>C | GRCh37 |
| NC_000008.9:g.91016585G>C | NCBI36 |
| NG_008860.1:g.54491C>G , LRG_158:g.54491C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.4086C>G (NBN) | ||
| ENST00000494804.2:n.3968C>G (NBN) | ||
| ENST00000517337.2:c.*401C>G (NBN) | ENSP00000429971.2:n.*401C>G | |
| ENST00000523444.2:c.*401C>G (NBN) | ENSP00000428252.2:n.*401C>G | |
| ENST00000697292.1:c.*38+363C>G (NBN) | ENSP00000513229.1:n.*38+363C>G | |
| ENST00000697293.1:c.*401C>G (NBN) | ENSP00000513230.1:n.*401C>G | |
| ENST00000697294.1:c.*2277C>G (NBN) | ENSP00000513231.1:n.*2277C>G | |
| ENST00000697295.1:c.*1975C>G (NBN) | ENSP00000513232.1:n.*1975C>G | |
| ENST00000697296.1:c.*2334C>G (NBN) | ENSP00000513233.1:n.*2334C>G | |
| ENST00000697297.1:n.4451C>G (NBN) | ||
| ENST00000697298.1:c.*401C>G (NBN) | ENSP00000513234.1:n.*401C>G | |
| ENST00000697299.1:c.*401C>G (NBN) | ENSP00000513235.1:n.*401C>G | |
| ENST00000697300.1:c.*2270C>G (NBN) | ENSP00000513236.1:n.*2270C>G | |
| ENST00000697301.1:c.*2187C>G (NBN) | ENSP00000513237.1:n.*2187C>G | |
| ENST00000697302.1:c.*2187C>G (NBN) | ENSP00000513238.1:n.*2187C>G | |
| ENST00000697303.1:c.*2270C>G (NBN) | ENSP00000513239.1:n.*2270C>G | |
| ENST00000697304.1:c.*401C>G (NBN) | ENSP00000513240.1:n.*401C>G | |
| ENST00000697305.1:n.2933C>G (NBN) | ||
| ENST00000697306.1:c.*3217C>G (NBN) | ENSP00000513241.1:n.*3217C>G | |
| ENST00000697307.1:c.*401C>G (NBN) | ENSP00000513242.1:n.*401C>G | |
| ENST00000697308.1:c.*401C>G (NBN) | ENSP00000513243.1:n.*401C>G | |
| ENST00000697309.1:c.*267C>G (NBN) | ENSP00000513244.1:n.*267C>G | |
| ENST00000697310.1:c.*39-141C>G (NBN) | ENSP00000513245.1:n.*39-141C>G | |
| ENST00000697311.1:c.*931C>G (NBN) | ENSP00000513246.1:n.*931C>G | |
| ENST00000697312.1:c.*2119C>G (NBN) | ENSP00000513247.1:n.*2119C>G | |
| ENST00000697313.1:n.3119C>G (NBN) | ||
| ENST00000265433.8:c.*401C>G (NBN) MANE Select | ENSP00000265433.4:n.*401C>G | |
| ENST00000265433.7:c.*401C>G (NBN) | ENSP00000265433.3:n.*401C>G | |
| ENST00000396252.6:c.*2539C>G (NBN) | ENSP00000379551.2:n.*2539C>G | |
| ENST00000409330.5:c.*401C>G (NBN) | ENSP00000386924.1:n.*401C>G | |
| ENST00000613033.1:c.776C>G (NBN) | ENSP00000484487.1:n.776C>G | |
| NM_001024688.2:c.*401C>G (NBN) | NP_001019859.1:n.*401C>G | |
| NM_002485.4:c.*401C>G , LRG_158t1:c.*401C>G (NBN) | NP_002476.2:n.*401C>G | |
| XM_011517044.1:c.*401C>G (NBN) | XP_011515346.1:n.*401C>G | |
| XM_011517045.1:c.*401C>G (NBN) | XP_011515347.1:n.*401C>G | |
| XM_011517287.3:c.*9649G>C (OSGIN2) | XP_011515589.1:n.*9649G>C | |
| XM_011517288.3:c.*9649G>C (OSGIN2) | XP_011515590.1:n.*9649G>C | |
| XM_017013460.1:c.*401C>G (NBN) | XP_016868949.1:n.*401C>G | |
| XM_017013462.2:c.*401C>G (NBN) | XP_016868951.1:n.*401C>G | |
| XM_024447163.1:c.*401C>G (NBN) | XP_024302931.1:n.*401C>G | |
| XM_024447164.1:c.*401C>G (NBN) | XP_024302932.1:n.*401C>G | |
| XM_024447165.1:c.*401C>G (NBN) | XP_024302933.1:n.*401C>G | |
| NM_002485.5:c.*401C>G (NBN) MANE Select | NP_002476.2:n.*401C>G | |
| NM_001024688.3:c.*401C>G (NBN) | NP_001019859.1:n.*401C>G |