Linked Data
ClinVar Variation Id:
6234
ClinVar RCV Id:
RCV000006612
dbSNP Id:
rs121434404
ExAC:
11:95574816 G / A
gnomAD v2:
11-95574816-G-A
gnomAD v4:
11-95841652-G-A
PubMed:
PMID:10802647
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.95841652G>A , CM000673.2:g.95841652G>A | GRCh38 |
| NC_000011.9:g.95574816G>A , CM000673.1:g.95574816G>A | GRCh37 |
| NC_000011.8:g.95214464G>A | NCBI36 |
| NG_008333.1:g.87556C>T , LRG_257:g.87556C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000346299.10:c.1444C>T MANE Select | ENSP00000345752.6:p.Gln482Ter | |
| ENST00000393223.8:c.1228C>T | ENSP00000376915.3:p.Gln410Ter | |
| ENST00000444541.7:c.1228C>T | ENSP00000396020.2:p.Gln410Ter | |
| ENST00000470293.6:c.1228C>T | ENSP00000502515.1:p.Gln410Ter | |
| ENST00000481642.6:c.1228C>T | ENSP00000502505.1:p.Gln410Ter | |
| ENST00000484818.6:c.1228C>T | ENSP00000501963.1:p.Gln410Ter | |
| ENST00000495134.6:c.1228C>T | ENSP00000501894.1:p.Gln410Ter | |
| ENST00000497683.6:c.1228C>T | ENSP00000501753.1:p.Gln410Ter | |
| ENST00000674528.1:c.1228C>T | ENSP00000501567.1:p.Gln410Ter | |
| ENST00000674610.1:c.1228C>T | ENSP00000501688.1:p.Gln410Ter | |
| ENST00000674901.1:n.2582C>T | ||
| ENST00000674924.1:c.1228C>T | ENSP00000502433.1:p.Gln410Ter | |
| ENST00000674950.1:c.*1633C>T | ENSP00000502425.1:n.*1633C>T | |
| ENST00000674968.1:c.1228C>T | ENSP00000502567.1:p.Gln410Ter | |
| ENST00000674974.1:c.*1379C>T | ENSP00000502337.1:n.*1379C>T | |
| ENST00000674989.1:c.1228C>T | ENSP00000502829.1:p.Gln410Ter | |
| ENST00000675022.1:c.1258C>T | ENSP00000502722.1:p.Gln420Ter | |
| ENST00000675024.1:n.2615C>T | ||
| ENST00000675030.1:c.*4613C>T | ENSP00000502386.1:n.*4613C>T | |
| ENST00000675034.1:n.2603C>T | ||
| ENST00000675174.1:c.1228C>T | ENSP00000502032.1:p.Gln410Ter | |
| ENST00000675196.1:c.1228C>T | ENSP00000501867.1:p.Gln410Ter | |
| ENST00000675237.1:n.2607C>T | ||
| ENST00000675288.1:c.1096C>T | ENSP00000501942.1:p.Gln366Ter | |
| ENST00000675320.1:c.*1241C>T | ENSP00000502076.1:n.*1241C>T | |
| ENST00000675362.1:c.1228C>T | ENSP00000501989.1:p.Gln410Ter | |
| ENST00000675413.1:n.2405C>T | ||
| ENST00000675438.1:c.1170+3301C>T | ENSP00000502388.1:n.1170+3301C>T | |
| ENST00000675454.1:c.1228C>T | ENSP00000501781.1:p.Gln410Ter | |
| ENST00000675477.1:c.1228C>T | ENSP00000501751.1:p.Gln410Ter | |
| ENST00000675489.1:c.1228C>T | ENSP00000501702.1:p.Gln410Ter | |
| ENST00000675495.1:n.2516C>T | ||
| ENST00000675636.1:c.1228C>T | ENSP00000501850.1:p.Gln410Ter | |
| ENST00000675652.1:c.1228C>T | ENSP00000502694.1:p.Gln410Ter | |
| ENST00000675660.1:c.1096C>T | ENSP00000502824.1:p.Gln366Ter | |
| ENST00000675767.1:n.2496C>T | ||
| ENST00000675807.1:c.1096C>T | ENSP00000501640.1:p.Gln366Ter | |
| ENST00000675848.1:c.1096C>T | ENSP00000502057.1:p.Gln366Ter | |
| ENST00000675896.1:c.*1357C>T | ENSP00000502487.1:n.*1357C>T | |
| ENST00000675910.1:c.*1382C>T | ENSP00000502622.1:n.*1382C>T | |
| ENST00000675922.1:c.*1335C>T | ENSP00000502168.1:n.*1335C>T | |
| ENST00000675933.1:c.1228C>T | ENSP00000502575.1:p.Gln410Ter | |
| ENST00000675957.1:n.2506C>T | ||
| ENST00000675981.1:c.1228C>T | ENSP00000502204.1:p.Gln410Ter | |
| ENST00000676027.1:c.1096C>T | ENSP00000502405.1:p.Gln366Ter | |
| ENST00000676146.1:c.*1055C>T | ENSP00000502583.1:n.*1055C>T | |
| ENST00000676166.1:c.1228C>T | ENSP00000501632.1:p.Gln410Ter | |
| ENST00000676177.1:c.*1357C>T | ENSP00000501635.1:n.*1357C>T | |
| ENST00000676261.1:c.1228C>T | ENSP00000501675.1:p.Gln410Ter | |
| ENST00000676268.1:c.*762C>T | ENSP00000502444.1:n.*762C>T | |
| ENST00000676272.1:c.1228C>T | ENSP00000501601.1:p.Gln410Ter | |
| ENST00000676378.1:c.1228C>T | ENSP00000502736.1:p.Gln410Ter | |
| ENST00000676388.1:c.*1184C>T | ENSP00000501866.1:n.*1184C>T | |
| ENST00000676393.1:n.2480C>T | ||
| ENST00000676432.1:n.2646C>T | ||
| ENST00000676440.1:c.1228C>T | ENSP00000501926.1:p.Gln410Ter | |
| ENST00000346299.9:c.1444C>T | ENSP00000345752.5:p.Gln482Ter | |
| ENST00000352297.11:c.1228C>T | ENSP00000343737.7:p.Gln410Ter | |
| ENST00000393223.7:c.1228C>T | ENSP00000376915.3:p.Gln410Ter | |
| ENST00000409459.5:c.1228C>T | ENSP00000386882.1:p.Gln410Ter | |
| ENST00000444541.6:c.1228C>T | ENSP00000396020.1:p.Gln410Ter | |
| NM_001243571.1:c.1228C>T | NP_001230500.1:p.Gln410Ter | |
| NM_016156.5:c.1444C>T , LRG_257t1:c.1444C>T | NP_057240.3:p.Gln482Ter | |
| NM_201278.2:c.1228C>T | NP_958435.1:p.Gln410Ter | |
| NM_201281.2:c.1228C>T | NP_958438.1:p.Gln410Ter | |
| XM_005274374.1:c.1228C>T | XP_005274431.1:p.Gln410Ter | |
| XM_005274375.1:c.1228C>T | XP_005274432.1:p.Gln410Ter | |
| XM_006718934.1:c.1228C>T | XP_006718997.1:p.Gln410Ter | |
| XM_006718935.1:c.1228C>T | XP_006718998.1:p.Gln410Ter | |
| XM_006718936.2:c.1228C>T | XP_006718999.1:p.Gln410Ter | |
| XM_011543058.1:c.1303C>T | XP_011541360.1:p.Gln435Ter | |
| XM_011543059.1:c.1303C>T | XP_011541361.1:p.Gln435Ter | |
| XM_005274374.3:c.1228C>T | XP_005274431.1:p.Gln410Ter | |
| XM_005274375.3:c.1228C>T | XP_005274432.1:p.Gln410Ter | |
| NM_001243571.2:c.1228C>T | NP_001230500.1:p.Gln410Ter | |
| NM_016156.6:c.1444C>T MANE Select | NP_057240.3:p.Gln482Ter | |
| NM_201278.3:c.1228C>T | NP_958435.1:p.Gln410Ter | |
| NM_201281.3:c.1228C>T | NP_958438.1:p.Gln410Ter |