Linked Data
ClinVar Variation Id:
183886
dbSNP Id:
rs762740478
ExAC:
8:90947828 A / G
gnomAD v2:
8-90947828-A-G
gnomAD v4:
8-89935600-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935600A>G , CM000670.2:g.89935600A>G | GRCh38 |
| NC_000008.10:g.90947828A>G , CM000670.1:g.90947828A>G | GRCh37 |
| NC_000008.9:g.91017004A>G | NCBI36 |
| NG_008860.1:g.54072T>C , LRG_158:g.54072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3667T>C (NBN) | ||
| ENST00000494804.2:n.3549T>C (NBN) | ||
| ENST00000517337.2:c.2001T>C (NBN) | ENSP00000429971.2:p.Tyr667= | |
| ENST00000523444.2:c.2001T>C (NBN) | ENSP00000428252.2:p.Tyr667= | |
| ENST00000697292.1:c.2247T>C (NBN) | ENSP00000513229.1:p.Tyr749= | |
| ENST00000697293.1:c.2298T>C (NBN) | ENSP00000513230.1:p.Tyr766= | |
| ENST00000697294.1:c.*1858T>C (NBN) | ENSP00000513231.1:n.*1858T>C | |
| ENST00000697295.1:c.*1556T>C (NBN) | ENSP00000513232.1:n.*1556T>C | |
| ENST00000697296.1:c.*1915T>C (NBN) | ENSP00000513233.1:n.*1915T>C | |
| ENST00000697297.1:n.4032T>C (NBN) | ||
| ENST00000697298.1:c.2001T>C (NBN) | ENSP00000513234.1:p.Tyr667= | |
| ENST00000697299.1:c.2001T>C (NBN) | ENSP00000513235.1:p.Tyr667= | |
| ENST00000697300.1:c.*1851T>C (NBN) | ENSP00000513236.1:n.*1851T>C | |
| ENST00000697301.1:c.*1768T>C (NBN) | ENSP00000513237.1:n.*1768T>C | |
| ENST00000697302.1:c.*1768T>C (NBN) | ENSP00000513238.1:n.*1768T>C | |
| ENST00000697303.1:c.*1851T>C (NBN) | ENSP00000513239.1:n.*1851T>C | |
| ENST00000697304.1:c.1935T>C (NBN) | ENSP00000513240.1:p.Tyr645= | |
| ENST00000697305.1:n.2514T>C (NBN) | ||
| ENST00000697306.1:c.*2798T>C (NBN) | ENSP00000513241.1:n.*2798T>C | |
| ENST00000697307.1:c.2022T>C (NBN) | ENSP00000513242.1:p.Tyr674= | |
| ENST00000697308.1:c.2178T>C (NBN) | ENSP00000513243.1:p.Tyr726= | |
| ENST00000697309.1:c.2197T>C (NBN) | ENSP00000513244.1:p.Phe733Leu | |
| ENST00000697310.1:c.2247T>C (NBN) | ENSP00000513245.1:p.Tyr749= | |
| ENST00000697311.1:c.*512T>C (NBN) | ENSP00000513246.1:n.*512T>C | |
| ENST00000697312.1:c.*1700T>C (NBN) | ENSP00000513247.1:n.*1700T>C | |
| ENST00000697313.1:n.2700T>C (NBN) | ||
| ENST00000697314.1:n.3649T>C (NBN) | ||
| ENST00000697315.1:c.*151T>C (NBN) | ENSP00000513248.1:n.*151T>C | |
| ENST00000265433.8:c.2247T>C (NBN) MANE Select | ENSP00000265433.4:p.Tyr749= | |
| ENST00000265433.7:c.2247T>C (NBN) | ENSP00000265433.3:p.Tyr749= | |
| ENST00000396252.6:c.*2120T>C (NBN) | ENSP00000379551.2:n.*2120T>C | |
| ENST00000409330.5:c.2001T>C (NBN) | ENSP00000386924.1:p.Tyr667= | |
| ENST00000474821.1:n.335T>C (NBN) | ||
| ENST00000613033.1:c.357T>C (NBN) | ENSP00000484487.1:p.Tyr119= | |
| NM_001024688.2:c.2001T>C (NBN) | NP_001019859.1:p.Tyr667= | |
| NM_002485.4:c.2247T>C , LRG_158t1:c.2247T>C (NBN) | NP_002476.2:p.Tyr749= | |
| XM_011517044.1:c.2223T>C (NBN) | XP_011515346.1:p.Tyr741= | |
| XM_011517045.1:c.2001T>C (NBN) | XP_011515347.1:p.Tyr667= | |
| XM_011517287.3:c.*10068A>G (OSGIN2) | XP_011515589.1:n.*10068A>G | |
| XM_011517288.3:c.*10068A>G (OSGIN2) | XP_011515590.1:n.*10068A>G | |
| XM_017013460.1:c.1368T>C (NBN) | XP_016868949.1:p.Tyr456= | |
| XM_017013462.2:c.1368T>C (NBN) | XP_016868951.1:p.Tyr456= | |
| XM_024447163.1:c.2001T>C (NBN) | XP_024302931.1:p.Tyr667= | |
| XM_024447164.1:c.2001T>C (NBN) | XP_024302932.1:p.Tyr667= | |
| XM_024447165.1:c.1368T>C (NBN) | XP_024302933.1:p.Tyr456= | |
| NM_002485.5:c.2247T>C (NBN) MANE Select | NP_002476.2:p.Tyr749= | |
| NM_001024688.3:c.2001T>C (NBN) | NP_001019859.1:p.Tyr667= |