Linked Data
ClinVar Variation Id:
41826
dbSNP Id:
rs1800744
ExAC:
17:41226488 C / A
gnomAD v2:
17-41226488-C-A
gnomAD v3:
17-43074471-C-A
gnomAD v4:
17-43074471-C-A
PubMed:
PMID:8807330
PMID:9523200
PMID:9663595
PMID:11149413
PMID:11389159
PMID:11979449
PMID:12215251
PMID:12402332
PMID:12845657
PMID:12955716
PMID:15235020
PMID:15689452
PMID:16014699
PMID:16267036
PMID:17279547
PMID:17308087
PMID:18680205
PMID:19298662
PMID:19329713
PMID:20104584
PMID:20215541
PMID:21447777
PMID:21520273
PMID:21702907
PMID:21990134
PMID:22703879
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43074471C>A , CM000679.2:g.43074471C>A | GRCh38 |
| NC_000017.10:g.41226488C>A , CM000679.1:g.41226488C>A | GRCh37 |
| NC_000017.9:g.38480014C>A | NCBI36 |
| NG_005905.2:g.143513G>T , LRG_292:g.143513G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.4532G>T | ENSP00000417241.2:p.Ser1511Ile | |
| ENST00000470026.6:c.4535G>T | ENSP00000419274.2:p.Ser1512Ile | |
| ENST00000473961.6:c.4409G>T | ENSP00000420201.2:p.Ser1470Ile | |
| ENST00000476777.6:c.4529G>T | ENSP00000417554.2:p.Ser1510Ile | |
| ENST00000477152.6:c.4457G>T | ENSP00000419988.2:p.Ser1486Ile | |
| ENST00000478531.6:c.1223G>T | ENSP00000420412.2:p.Ser408Ile | |
| ENST00000489037.2:c.4457G>T | ENSP00000420781.2:p.Ser1486Ile | |
| ENST00000493919.6:c.1085G>T | ENSP00000418819.2:p.Ser362Ile | |
| ENST00000494123.6:c.4535G>T | ENSP00000419103.2:p.Ser1512Ile | |
| ENST00000497488.2:c.3647G>T | ENSP00000418986.2:p.Ser1216Ile | |
| ENST00000618469.2:c.4535G>T | ENSP00000478114.2:p.Ser1512Ile | |
| ENST00000634433.2:c.4412G>T | ENSP00000489431.2:p.Ser1471Ile | |
| ENST00000644379.2:c.4601G>T | ENSP00000496570.2:p.Ser1534Ile | |
| ENST00000644555.2:c.1085G>T | ENSP00000494614.2:p.Ser362Ile | |
| ENST00000652672.2:c.4394G>T | ENSP00000498906.2:p.Ser1465Ile | |
| ENST00000484087.6:c.1097G>T | ENSP00000419481.2:p.Ser366Ile | |
| ENST00000700182.1:c.1142G>T | ENSP00000514849.1:p.Ser381Ile | |
| ENST00000357654.9:c.4535G>T MANE Select | ENSP00000350283.3:p.Ser1512Ile | |
| ENST00000471181.7:c.4598G>T | ENSP00000418960.2:p.Ser1533Ile | |
| ENST00000644379.1:c.922G>T | ||
| ENST00000352993.7:c.1109G>T | ENSP00000312236.5:p.Ser370Ile | |
| ENST00000357654.7:c.4535G>T | ENSP00000350283.3:p.Ser1512Ile | |
| ENST00000461221.5:c.*4318G>T | ENSP00000418548.1:n.*4318G>T | |
| ENST00000468300.5:c.1223G>T | ENSP00000417148.1:p.Ser408Ile | |
| ENST00000471181.6:c.4598G>T | ENSP00000418960.2:p.Ser1533Ile | |
| ENST00000478531.5:c.1223G>T | ENSP00000420412.1:p.Ser408Ile | |
| ENST00000484087.5:c.848G>T | ENSP00000419481.1:p.Ser283Ile | |
| ENST00000491747.6:c.1223G>T | ENSP00000420705.2:p.Ser408Ile | |
| ENST00000493795.5:c.4394G>T | ENSP00000418775.1:p.Ser1465Ile | |
| ENST00000493919.5:c.1085G>T | ENSP00000418819.1:p.Ser362Ile | |
| ENST00000586385.5:c.5-10520G>T | ENSP00000465818.1:n.5-10520G>T | |
| ENST00000591534.5:c.8G>T | ENSP00000467329.1:p.Ser3Ile | |
| ENST00000591849.5:c.-98-24281G>T | ENSP00000465347.1:n.-98-24281G>T | |
| NM_007294.3:c.4535G>T , LRG_292t1:c.4535G>T | NP_009225.1:p.Ser1512Ile | |
| NM_007297.3:c.4394G>T | NP_009228.2:p.Ser1465Ile | |
| NM_007298.3:c.1223G>T | NP_009229.2:p.Ser408Ile | |
| NM_007299.3:c.1223G>T | NP_009230.2:p.Ser408Ile | |
| NM_007300.3:c.4598G>T | NP_009231.2:p.Ser1533Ile | |
| NR_027676.1:n.4671G>T | ||
| NM_007294.4:c.4535G>T MANE Select | NP_009225.1:p.Ser1512Ile | |
| NM_007297.4:c.4394G>T | NP_009228.2:p.Ser1465Ile | |
| NM_007299.4:c.1223G>T | NP_009230.2:p.Ser408Ile | |
| NM_007300.4:c.4598G>T | NP_009231.2:p.Ser1533Ile | |
| NR_027676.2:n.4712G>T |