Linked Data
ClinVar Variation Id:
2731288
ClinVar RCV Id:
RCV003504419
dbSNP Id:
rs762985970
ExAC:
10:88476399 G / T
gnomAD v2:
10-88476399-G-T
gnomAD v4:
10-86716642-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.86716642G>T , CM000672.2:g.86716642G>T | GRCh38 |
| NC_000010.10:g.88476399G>T , CM000672.1:g.88476399G>T | GRCh37 |
| NC_000010.9:g.88466379G>T | NCBI36 |
| NG_008876.1:g.53079G>T , LRG_385:g.53079G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000687154.1:n.515-2085G>T | ||
| ENST00000688001.1:c.1358G>T | ENSP00000508987.1:p.Arg453Leu | |
| ENST00000689296.1:c.1358G>T | ENSP00000510609.1:p.Arg453Leu | |
| ENST00000689740.1:c.1406G>T | ENSP00000510300.1:p.Arg469Leu | |
| ENST00000693680.1:c.1406G>T | ENSP00000509539.1:p.Arg469Leu | |
| ENST00000361373.9:c.1547G>T MANE Select | ENSP00000355296.3:p.Arg516Leu | |
| ENST00000429277.7:c.1217G>T | ENSP00000401437.3:p.Arg406Leu | |
| ENST00000623056.4:c.1562G>T | ENSP00000485500.1:p.Arg521Leu | |
| ENST00000263066.10:c.1217G>T | ENSP00000263066.6:p.Arg406Leu | |
| ENST00000361373.8:c.1547G>T | ENSP00000355296.3:p.Arg516Leu | |
| ENST00000429277.6:c.1562G>T | ENSP00000401437.2:p.Arg521Leu | |
| ENST00000623056.3:c.1562G>T | ENSP00000485500.1:p.Arg521Leu | |
| NM_001080114.1:c.1217G>T | NP_001073583.1:p.Arg406Leu | |
| NM_001171610.1:c.1562G>T | NP_001165081.1:p.Arg521Leu | |
| NM_007078.2:c.1547G>T , LRG_385t1:c.1547G>T | NP_009009.1:p.Arg516Leu | |
| XM_005269464.3:c.1547G>T | XP_005269521.1:p.Arg516Leu | |
| XM_005269466.3:c.1358G>T | XP_005269523.1:p.Arg453Leu | |
| XM_011539184.1:c.1799G>T | XP_011537486.1:p.Arg600Leu | |
| XM_011539185.1:c.1799G>T | XP_011537487.1:p.Arg600Leu | |
| XM_011539186.1:c.1751G>T | XP_011537488.1:p.Arg584Leu | |
| XM_011539187.1:c.1610G>T | XP_011537489.1:p.Arg537Leu | |
| XM_011539188.1:c.1595G>T | XP_011537490.1:p.Arg532Leu | |
| XM_011539189.1:c.1454G>T | XP_011537491.1:p.Arg485Leu | |
| XM_011539190.1:c.1406G>T | XP_011537492.1:p.Arg469Leu | |
| XM_011539191.1:c.1265G>T | XP_011537493.1:p.Arg422Leu | |
| XM_011539192.1:c.1250G>T | XP_011537494.1:p.Arg417Leu | |
| XM_011539193.1:c.755G>T | XP_011537495.1:p.Arg252Leu | |
| XM_011539194.1:c.566G>T | XP_011537496.1:p.Arg189Leu | |
| XM_005269464.4:c.1547G>T | XP_005269521.1:p.Arg516Leu | |
| XM_005269466.4:c.1358G>T | XP_005269523.1:p.Arg453Leu | |
| XM_011539184.2:c.1799G>T | XP_011537486.1:p.Arg600Leu | |
| XM_011539185.2:c.1799G>T | XP_011537487.1:p.Arg600Leu | |
| XM_011539186.2:c.1751G>T | XP_011537488.1:p.Arg584Leu | |
| XM_011539187.2:c.1610G>T | XP_011537489.1:p.Arg537Leu | |
| XM_011539188.2:c.1595G>T | XP_011537490.1:p.Arg532Leu | |
| XM_011539190.2:c.1406G>T | XP_011537492.1:p.Arg469Leu | |
| XM_011539191.2:c.1265G>T | XP_011537493.1:p.Arg422Leu | |
| XM_017015606.1:c.1595G>T | XP_016871095.1:p.Arg532Leu | |
| XM_017015607.1:c.755G>T | XP_016871096.1:p.Arg252Leu | |
| XM_024447785.1:c.1454G>T | XP_024303553.1:p.Arg485Leu | |
| XM_024447786.1:c.1217G>T | XP_024303554.1:p.Arg406Leu | |
| NM_001080114.2:c.1217G>T | NP_001073583.1:p.Arg406Leu | |
| NM_001171610.2:c.1562G>T | NP_001165081.1:p.Arg521Leu | |
| NM_001368064.1:c.1358G>T | NP_001354993.1:p.Arg453Leu | |
| NM_001368065.1:c.1358G>T | NP_001354994.1:p.Arg453Leu | |
| NM_001368066.1:c.1406G>T | NP_001354995.1:p.Arg469Leu | |
| NM_007078.3:c.1547G>T MANE Select | NP_009009.1:p.Arg516Leu |