Linked Data
ClinVar Variation Id:
480044
dbSNP Id:
rs751570713
ExAC:
8:90947837 G / T
gnomAD v2:
8-90947837-G-T
gnomAD v4:
8-89935609-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89935609G>T , CM000670.2:g.89935609G>T | GRCh38 |
| NC_000008.10:g.90947837G>T , CM000670.1:g.90947837G>T | GRCh37 |
| NC_000008.9:g.91017013G>T | NCBI36 |
| NG_008860.1:g.54063C>A , LRG_158:g.54063C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474821.2:n.3658C>A (NBN) | ||
| ENST00000494804.2:n.3540C>A (NBN) | ||
| ENST00000517337.2:c.1992C>A (NBN) | ENSP00000429971.2:p.Tyr664Ter | |
| ENST00000523444.2:c.1992C>A (NBN) | ENSP00000428252.2:p.Tyr664Ter | |
| ENST00000697292.1:c.2238C>A (NBN) | ENSP00000513229.1:p.Tyr746Ter | |
| ENST00000697293.1:c.2289C>A (NBN) | ENSP00000513230.1:p.Tyr763Ter | |
| ENST00000697294.1:c.*1849C>A (NBN) | ENSP00000513231.1:n.*1849C>A | |
| ENST00000697295.1:c.*1547C>A (NBN) | ENSP00000513232.1:n.*1547C>A | |
| ENST00000697296.1:c.*1906C>A (NBN) | ENSP00000513233.1:n.*1906C>A | |
| ENST00000697297.1:n.4023C>A (NBN) | ||
| ENST00000697298.1:c.1992C>A (NBN) | ENSP00000513234.1:p.Tyr664Ter | |
| ENST00000697299.1:c.1992C>A (NBN) | ENSP00000513235.1:p.Tyr664Ter | |
| ENST00000697300.1:c.*1842C>A (NBN) | ENSP00000513236.1:n.*1842C>A | |
| ENST00000697301.1:c.*1759C>A (NBN) | ENSP00000513237.1:n.*1759C>A | |
| ENST00000697302.1:c.*1759C>A (NBN) | ENSP00000513238.1:n.*1759C>A | |
| ENST00000697303.1:c.*1842C>A (NBN) | ENSP00000513239.1:n.*1842C>A | |
| ENST00000697304.1:c.1926C>A (NBN) | ENSP00000513240.1:p.Tyr642Ter | |
| ENST00000697305.1:n.2505C>A (NBN) | ||
| ENST00000697306.1:c.*2789C>A (NBN) | ENSP00000513241.1:n.*2789C>A | |
| ENST00000697307.1:c.2013C>A (NBN) | ENSP00000513242.1:p.Tyr671Ter | |
| ENST00000697308.1:c.2169C>A (NBN) | ENSP00000513243.1:p.Tyr723Ter | |
| ENST00000697309.1:c.2188C>A (NBN) | ENSP00000513244.1:p.Gln730Lys | |
| ENST00000697310.1:c.2238C>A (NBN) | ENSP00000513245.1:p.Tyr746Ter | |
| ENST00000697311.1:c.*503C>A (NBN) | ENSP00000513246.1:n.*503C>A | |
| ENST00000697312.1:c.*1691C>A (NBN) | ENSP00000513247.1:n.*1691C>A | |
| ENST00000697313.1:n.2691C>A (NBN) | ||
| ENST00000697314.1:n.3640C>A (NBN) | ||
| ENST00000697315.1:c.*142C>A (NBN) | ENSP00000513248.1:n.*142C>A | |
| ENST00000265433.8:c.2238C>A (NBN) MANE Select | ENSP00000265433.4:p.Tyr746Ter | |
| ENST00000265433.7:c.2238C>A (NBN) | ENSP00000265433.3:p.Tyr746Ter | |
| ENST00000396252.6:c.*2111C>A (NBN) | ENSP00000379551.2:n.*2111C>A | |
| ENST00000409330.5:c.1992C>A (NBN) | ENSP00000386924.1:p.Tyr664Ter | |
| ENST00000474821.1:n.326C>A (NBN) | ||
| ENST00000613033.1:c.348C>A (NBN) | ENSP00000484487.1:p.Tyr116Ter | |
| NM_001024688.2:c.1992C>A (NBN) | NP_001019859.1:p.Tyr664Ter | |
| NM_002485.4:c.2238C>A , LRG_158t1:c.2238C>A (NBN) | NP_002476.2:p.Tyr746Ter | |
| XM_011517044.1:c.2214C>A (NBN) | XP_011515346.1:p.Tyr738Ter | |
| XM_011517045.1:c.1992C>A (NBN) | XP_011515347.1:p.Tyr664Ter | |
| XM_011517287.3:c.*10077G>T (OSGIN2) | XP_011515589.1:n.*10077G>T | |
| XM_011517288.3:c.*10077G>T (OSGIN2) | XP_011515590.1:n.*10077G>T | |
| XM_017013460.1:c.1359C>A (NBN) | XP_016868949.1:p.Tyr453Ter | |
| XM_017013462.2:c.1359C>A (NBN) | XP_016868951.1:p.Tyr453Ter | |
| XM_024447163.1:c.1992C>A (NBN) | XP_024302931.1:p.Tyr664Ter | |
| XM_024447164.1:c.1992C>A (NBN) | XP_024302932.1:p.Tyr664Ter | |
| XM_024447165.1:c.1359C>A (NBN) | XP_024302933.1:p.Tyr453Ter | |
| NM_002485.5:c.2238C>A (NBN) MANE Select | NP_002476.2:p.Tyr746Ter | |
| NM_001024688.3:c.1992C>A (NBN) | NP_001019859.1:p.Tyr664Ter |