Linked Data
ClinVar Variation Id:
363905
ClinVar RCV Id:
RCV000272651
dbSNP Id:
rs2735383
gnomAD v2:
8-90947269-C-G
gnomAD v3:
8-89935041-C-G
gnomAD v4:
8-89935041-C-G
PubMed:
PMID:22114071
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935041C>G , CM000670.2:g.89935041C>G | GRCh38 |
| NC_000008.10:g.90947269C>G , CM000670.1:g.90947269C>G | GRCh37 |
| NC_000008.9:g.91016445C>G | NCBI36 |
| NG_008860.1:g.54631G>C , LRG_158:g.54631G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474821.2:n.4226G>C (NBN) | ||
| ENST00000494804.2:n.4108G>C (NBN) | ||
| ENST00000517337.2:c.*541G>C (NBN) | ENSP00000429971.2:n.*541G>C | |
| ENST00000523444.2:c.*541G>C (NBN) | ENSP00000428252.2:n.*541G>C | |
| ENST00000697292.1:c.*38+503G>C (NBN) | ENSP00000513229.1:n.*38+503G>C | |
| ENST00000697293.1:c.*541G>C (NBN) | ENSP00000513230.1:n.*541G>C | |
| ENST00000697294.1:c.*2417G>C (NBN) | ENSP00000513231.1:n.*2417G>C | |
| ENST00000697295.1:c.*2115G>C (NBN) | ENSP00000513232.1:n.*2115G>C | |
| ENST00000697296.1:c.*2474G>C (NBN) | ENSP00000513233.1:n.*2474G>C | |
| ENST00000697297.1:n.4591G>C (NBN) | ||
| ENST00000697298.1:c.*541G>C (NBN) | ENSP00000513234.1:n.*541G>C | |
| ENST00000697299.1:c.*541G>C (NBN) | ENSP00000513235.1:n.*541G>C | |
| ENST00000697300.1:c.*2410G>C (NBN) | ENSP00000513236.1:n.*2410G>C | |
| ENST00000697301.1:c.*2327G>C (NBN) | ENSP00000513237.1:n.*2327G>C | |
| ENST00000697302.1:c.*2327G>C (NBN) | ENSP00000513238.1:n.*2327G>C | |
| ENST00000697303.1:c.*2410G>C (NBN) | ENSP00000513239.1:n.*2410G>C | |
| ENST00000697304.1:c.*541G>C (NBN) | ENSP00000513240.1:n.*541G>C | |
| ENST00000697305.1:n.3073G>C (NBN) | ||
| ENST00000697306.1:c.*3357G>C (NBN) | ENSP00000513241.1:n.*3357G>C | |
| ENST00000697307.1:c.*541G>C (NBN) | ENSP00000513242.1:n.*541G>C | |
| ENST00000697308.1:c.*541G>C (NBN) | ENSP00000513243.1:n.*541G>C | |
| ENST00000697309.1:c.*407G>C (NBN) | ENSP00000513244.1:n.*407G>C | |
| ENST00000697310.1:c.*39-1G>C (NBN) | ENSP00000513245.1:n.*39-1G>C | |
| ENST00000697311.1:c.*1071G>C (NBN) | ENSP00000513246.1:n.*1071G>C | |
| ENST00000697312.1:c.*2259G>C (NBN) | ENSP00000513247.1:n.*2259G>C | |
| ENST00000697313.1:n.3259G>C (NBN) | ||
| ENST00000265433.8:c.*541G>C (NBN) MANE Select | ENSP00000265433.4:n.*541G>C | |
| ENST00000265433.7:c.*541G>C (NBN) | ENSP00000265433.3:n.*541G>C | |
| ENST00000396252.6:c.*2679G>C (NBN) | ENSP00000379551.2:n.*2679G>C | |
| ENST00000409330.5:c.*541G>C (NBN) | ENSP00000386924.1:n.*541G>C | |
| NM_001024688.2:c.*541G>C (NBN) | NP_001019859.1:n.*541G>C | |
| NM_002485.4:c.*541G>C , LRG_158t1:c.*541G>C (NBN) | NP_002476.2:n.*541G>C | |
| XM_011517044.1:c.*541G>C (NBN) | XP_011515346.1:n.*541G>C | |
| XM_011517045.1:c.*541G>C (NBN) | XP_011515347.1:n.*541G>C | |
| XM_011517287.3:c.*9509C>G (OSGIN2) | XP_011515589.1:n.*9509C>G | |
| XM_011517288.3:c.*9509C>G (OSGIN2) | XP_011515590.1:n.*9509C>G | |
| XM_017013460.1:c.*541G>C (NBN) | XP_016868949.1:n.*541G>C | |
| XM_017013462.2:c.*541G>C (NBN) | XP_016868951.1:n.*541G>C | |
| XM_024447163.1:c.*541G>C (NBN) | XP_024302931.1:n.*541G>C | |
| XM_024447164.1:c.*541G>C (NBN) | XP_024302932.1:n.*541G>C | |
| XM_024447165.1:c.*541G>C (NBN) | XP_024302933.1:n.*541G>C | |
| NM_002485.5:c.*541G>C (NBN) MANE Select | NP_002476.2:n.*541G>C | |
| NM_001024688.3:c.*541G>C (NBN) | NP_001019859.1:n.*541G>C |