Linked Data
ClinVar Variation Id:
8349
dbSNP Id:
rs1801725
ExAC:
3:122003757 G / T
gnomAD v2:
3-122003757-G-T
gnomAD v3:
3-122284910-G-T
gnomAD v4:
3-122284910-G-T
PubMed:
PMID:8636323
PMID:10023897
PMID:10217111
PMID:10912749
PMID:11161843
PMID:11248745
PMID:11580999
PMID:11733622
PMID:12018449
PMID:12040821
PMID:12052452
PMID:12239240
PMID:12574201
PMID:14508624
PMID:14997007
PMID:15531522
PMID:15864123
PMID:16497624
PMID:17018660
PMID:17117288
PMID:17309124
PMID:17320849
PMID:17332735
PMID:17698911
PMID:18328986
PMID:18680227
PMID:19694204
PMID:20602573
PMID:22024717
PMID:25705702
PMID:26107257
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122284910G>T , CM000665.2:g.122284910G>T | GRCh38 |
| NC_000003.11:g.122003757G>T , CM000665.1:g.122003757G>T | GRCh37 |
| NC_000003.10:g.123486447G>T | NCBI36 |
| NG_009058.1:g.106228G>T | |
| NG_009058.2:g.106243G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.2725G>T | ENSP00000418685.2:p.Ala909Ser | |
| ENST00000498619.4:c.2986G>T | ENSP00000420194.1:p.Ala996Ser | |
| ENST00000638421.1:c.2956G>T | ENSP00000492190.1:p.Ala986Ser | |
| ENST00000639785.2:c.2956G>T MANE Select | ENSP00000491584.2:p.Ala986Ser | |
| ENST00000490131.5:c.2956G>T | ENSP00000418685.1:p.Ala986Ser | |
| ENST00000498619.2:c.2986G>T | ENSP00000420194.1:p.Ala996Ser | |
| NM_000388.3:c.2956G>T | NP_000379.2:p.Ala986Ser | |
| NM_001178065.1:c.2986G>T | NP_001171536.1:p.Ala996Ser | |
| XM_005247836.2:c.2956G>T | XP_005247893.1:p.Ala986Ser | |
| XM_005247837.2:c.2473G>T | XP_005247894.1:p.Ala825Ser | |
| XM_006713789.2:c.2956G>T | XP_006713852.1:p.Ala986Ser | |
| XM_011513237.1:c.2956G>T | XP_011511539.1:p.Ala986Ser | |
| XM_011513238.1:c.2956G>T | XP_011511540.1:p.Ala986Ser | |
| XM_011513239.1:c.2368G>T | XP_011511541.1:p.Ala790Ser | |
| XM_006713789.3:c.2956G>T | XP_006713852.1:p.Ala986Ser | |
| XM_017007324.1:c.2956G>T | XP_016862813.1:p.Ala986Ser | |
| XM_017007325.1:c.2956G>T | XP_016862814.1:p.Ala986Ser | |
| NM_000388.4:c.2956G>T MANE Select | NP_000379.3:p.Ala986Ser | |
| NM_001178065.2:c.2986G>T | NP_001171536.2:p.Ala996Ser |