gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935612T>C , CM000670.2:g.89935612T>C | GRCh38 |
| NC_000008.10:g.90947840T>C , CM000670.1:g.90947840T>C | GRCh37 |
| NC_000008.9:g.91017016T>C | NCBI36 |
| NG_008860.1:g.54060A>G , LRG_158:g.54060A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3655A>G (NBN) | ||
| ENST00000494804.2:n.3537A>G (NBN) | ||
| ENST00000517337.2:c.1989A>G (NBN) | ENSP00000429971.2:p.Arg663= | |
| ENST00000523444.2:c.1989A>G (NBN) | ENSP00000428252.2:p.Arg663= | |
| ENST00000697292.1:c.2235A>G (NBN) | ENSP00000513229.1:p.Arg745= | |
| ENST00000697293.1:c.2286A>G (NBN) | ENSP00000513230.1:p.Arg762= | |
| ENST00000697294.1:c.*1846A>G (NBN) | ENSP00000513231.1:n.*1846A>G | |
| ENST00000697295.1:c.*1544A>G (NBN) | ENSP00000513232.1:n.*1544A>G | |
| ENST00000697296.1:c.*1903A>G (NBN) | ENSP00000513233.1:n.*1903A>G | |
| ENST00000697297.1:n.4020A>G (NBN) | ||
| ENST00000697298.1:c.1989A>G (NBN) | ENSP00000513234.1:p.Arg663= | |
| ENST00000697299.1:c.1989A>G (NBN) | ENSP00000513235.1:p.Arg663= | |
| ENST00000697300.1:c.*1839A>G (NBN) | ENSP00000513236.1:n.*1839A>G | |
| ENST00000697301.1:c.*1756A>G (NBN) | ENSP00000513237.1:n.*1756A>G | |
| ENST00000697302.1:c.*1756A>G (NBN) | ENSP00000513238.1:n.*1756A>G | |
| ENST00000697303.1:c.*1839A>G (NBN) | ENSP00000513239.1:n.*1839A>G | |
| ENST00000697304.1:c.1923A>G (NBN) | ENSP00000513240.1:p.Arg641= | |
| ENST00000697305.1:n.2502A>G (NBN) | ||
| ENST00000697306.1:c.*2786A>G (NBN) | ENSP00000513241.1:n.*2786A>G | |
| ENST00000697307.1:c.2010A>G (NBN) | ENSP00000513242.1:p.Arg670= | |
| ENST00000697308.1:c.2166A>G (NBN) | ENSP00000513243.1:p.Arg722= | |
| ENST00000697309.1:c.2185A>G (NBN) | ENSP00000513244.1:p.Ile729Val | |
| ENST00000697310.1:c.2235A>G (NBN) | ENSP00000513245.1:p.Arg745= | |
| ENST00000697311.1:c.*500A>G (NBN) | ENSP00000513246.1:n.*500A>G | |
| ENST00000697312.1:c.*1688A>G (NBN) | ENSP00000513247.1:n.*1688A>G | |
| ENST00000697313.1:n.2688A>G (NBN) | ||
| ENST00000697314.1:n.3637A>G (NBN) | ||
| ENST00000697315.1:c.*139A>G (NBN) | ENSP00000513248.1:n.*139A>G | |
| ENST00000265433.8:c.2235A>G (NBN) MANE Select | ENSP00000265433.4:p.Arg745= | |
| ENST00000265433.7:c.2235A>G (NBN) | ENSP00000265433.3:p.Arg745= | |
| ENST00000396252.6:c.*2108A>G (NBN) | ENSP00000379551.2:n.*2108A>G | |
| ENST00000409330.5:c.1989A>G (NBN) | ENSP00000386924.1:p.Arg663= | |
| ENST00000474821.1:n.323A>G (NBN) | ||
| ENST00000613033.1:c.345A>G (NBN) | ENSP00000484487.1:p.Arg115= | |
| NM_001024688.2:c.1989A>G (NBN) | NP_001019859.1:p.Arg663= | |
| NM_002485.4:c.2235A>G , LRG_158t1:c.2235A>G (NBN) | NP_002476.2:p.Arg745= | |
| XM_011517044.1:c.2211A>G (NBN) | XP_011515346.1:p.Arg737= | |
| XM_011517045.1:c.1989A>G (NBN) | XP_011515347.1:p.Arg663= | |
| XM_011517287.3:c.*10080T>C (OSGIN2) | XP_011515589.1:n.*10080T>C | |
| XM_011517288.3:c.*10080T>C (OSGIN2) | XP_011515590.1:n.*10080T>C | |
| XM_017013460.1:c.1356A>G (NBN) | XP_016868949.1:p.Arg452= | |
| XM_017013462.2:c.1356A>G (NBN) | XP_016868951.1:p.Arg452= | |
| XM_024447163.1:c.1989A>G (NBN) | XP_024302931.1:p.Arg663= | |
| XM_024447164.1:c.1989A>G (NBN) | XP_024302932.1:p.Arg663= | |
| XM_024447165.1:c.1356A>G (NBN) | XP_024302933.1:p.Arg452= | |
| NM_002485.5:c.2235A>G (NBN) MANE Select | NP_002476.2:p.Arg745= | |
| NM_001024688.3:c.1989A>G (NBN) | NP_001019859.1:p.Arg663= |