Linked Data
ClinVar Variation Id:
306514
ClinVar RCV Id:
RCV000262209
dbSNP Id:
rs496305
gnomAD v2:
11-95567035-C-T
gnomAD v3:
11-95833871-C-T
gnomAD v4:
11-95833871-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95833871C>T , CM000673.2:g.95833871C>T | GRCh38 |
| NC_000011.9:g.95567035C>T , CM000673.1:g.95567035C>T | GRCh37 |
| NC_000011.8:g.95206683C>T | NCBI36 |
| NG_008333.1:g.95337G>A , LRG_257:g.95337G>A | |
| NG_029829.1:g.48411C>T , LRG_526:g.48411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346299.10:c.*1419G>A MANE Select | ENSP00000345752.6:n.*1419G>A | |
| ENST00000393223.8:c.*1419G>A | ENSP00000376915.3:n.*1419G>A | |
| ENST00000674528.1:c.*1419G>A | ENSP00000501567.1:n.*1419G>A | |
| ENST00000674610.1:c.*1419G>A | ENSP00000501688.1:n.*1419G>A | |
| ENST00000674901.1:n.4489G>A | ||
| ENST00000674924.1:c.*1419G>A | ENSP00000502433.1:n.*1419G>A | |
| ENST00000674950.1:c.*3540G>A | ENSP00000502425.1:n.*3540G>A | |
| ENST00000674968.1:c.*1419G>A | ENSP00000502567.1:n.*1419G>A | |
| ENST00000674974.1:c.*3286G>A | ENSP00000502337.1:n.*3286G>A | |
| ENST00000674989.1:c.*1419G>A | ENSP00000502829.1:n.*1419G>A | |
| ENST00000675022.1:c.*1419G>A | ENSP00000502722.1:n.*1419G>A | |
| ENST00000675024.1:n.4522G>A | ||
| ENST00000675030.1:c.*6520G>A | ENSP00000502386.1:n.*6520G>A | |
| ENST00000675034.1:n.4510G>A | ||
| ENST00000675174.1:c.*1419G>A | ENSP00000502032.1:n.*1419G>A | |
| ENST00000675196.1:c.*1419G>A | ENSP00000501867.1:n.*1419G>A | |
| ENST00000675237.1:n.4514G>A | ||
| ENST00000675288.1:c.*1419G>A | ENSP00000501942.1:n.*1419G>A | |
| ENST00000675320.1:c.*3148G>A | ENSP00000502076.1:n.*3148G>A | |
| ENST00000675362.1:c.*1419G>A | ENSP00000501989.1:n.*1419G>A | |
| ENST00000675413.1:n.4312G>A | ||
| ENST00000675454.1:c.*1419G>A | ENSP00000501781.1:n.*1419G>A | |
| ENST00000675477.1:c.*1419G>A | ENSP00000501751.1:n.*1419G>A | |
| ENST00000675495.1:n.4423G>A | ||
| ENST00000675636.1:c.*1419G>A | ENSP00000501850.1:n.*1419G>A | |
| ENST00000675652.1:c.*1419G>A | ENSP00000502694.1:n.*1419G>A | |
| ENST00000675660.1:c.*1419G>A | ENSP00000502824.1:n.*1419G>A | |
| ENST00000675767.1:n.4403G>A | ||
| ENST00000675848.1:c.*1419G>A | ENSP00000502057.1:n.*1419G>A | |
| ENST00000675896.1:c.*1814+1450G>A | ENSP00000502487.1:n.*1814+1450G>A | |
| ENST00000675910.1:c.*3289G>A | ENSP00000502622.1:n.*3289G>A | |
| ENST00000675922.1:c.*3242G>A | ENSP00000502168.1:n.*3242G>A | |
| ENST00000675933.1:c.*1419G>A | ENSP00000502575.1:n.*1419G>A | |
| ENST00000675957.1:n.4413G>A | ||
| ENST00000675981.1:c.*1419G>A | ENSP00000502204.1:n.*1419G>A | |
| ENST00000676027.1:c.*1419G>A | ENSP00000502405.1:n.*1419G>A | |
| ENST00000676146.1:c.*2962G>A | ENSP00000502583.1:n.*2962G>A | |
| ENST00000676166.1:c.*1419G>A | ENSP00000501632.1:n.*1419G>A | |
| ENST00000676177.1:c.*3264G>A | ENSP00000501635.1:n.*3264G>A | |
| ENST00000676268.1:c.*2669G>A | ENSP00000502444.1:n.*2669G>A | |
| ENST00000676272.1:c.*1419G>A | ENSP00000501601.1:n.*1419G>A | |
| ENST00000676378.1:c.*1419G>A | ENSP00000502736.1:n.*1419G>A | |
| ENST00000676388.1:c.*3091G>A | ENSP00000501866.1:n.*3091G>A | |
| ENST00000676393.1:n.4387G>A | ||
| ENST00000676432.1:n.4553G>A | ||
| ENST00000676440.1:c.*1419G>A | ENSP00000501926.1:n.*1419G>A | |
| ENST00000346299.9:c.*1419G>A | ENSP00000345752.5:n.*1419G>A | |
| ENST00000393223.7:c.*1419G>A | ENSP00000376915.3:n.*1419G>A | |
| NM_001243571.1:c.*1419G>A | NP_001230500.1:n.*1419G>A | |
| NM_016156.5:c.*1419G>A , LRG_257t1:c.*1419G>A | NP_057240.3:n.*1419G>A | |
| NM_201278.2:c.*1419G>A | NP_958435.1:n.*1419G>A | |
| NM_201281.2:c.*1419G>A | NP_958438.1:n.*1419G>A | |
| XM_005274374.1:c.*1419G>A | XP_005274431.1:n.*1419G>A | |
| XM_005274375.1:c.*1419G>A | XP_005274432.1:n.*1419G>A | |
| XM_006718934.1:c.*1419G>A | XP_006718997.1:n.*1419G>A | |
| XM_006718935.1:c.*1419G>A | XP_006718998.1:n.*1419G>A | |
| XM_006718936.2:c.*1419G>A | XP_006718999.1:n.*1419G>A | |
| XM_011543058.1:c.*1419G>A | XP_011541360.1:n.*1419G>A | |
| XM_011543059.1:c.*1419G>A | XP_011541361.1:n.*1419G>A | |
| XM_005274374.3:c.*1419G>A | XP_005274431.1:n.*1419G>A | |
| XM_005274375.3:c.*1419G>A | XP_005274432.1:n.*1419G>A | |
| NM_001243571.2:c.*1419G>A | NP_001230500.1:n.*1419G>A | |
| NM_016156.6:c.*1419G>A MANE Select | NP_057240.3:n.*1419G>A | |
| NM_201278.3:c.*1419G>A | NP_958435.1:n.*1419G>A | |
| NM_201281.3:c.*1419G>A | NP_958438.1:n.*1419G>A |