Linked Data
ClinVar Variation Id:
532639
ClinVar RCV Id:
RCV000711040
RCV001145541
RCV001087594
RCV001145542
RCV001149875
RCV001149876
RCV004025574
dbSNP Id:
rs556263764
ExAC:
3:122004035 A / T
gnomAD v2:
3-122004035-A-T
gnomAD v3:
3-122285188-A-T
gnomAD v4:
3-122285188-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122285188A>T , CM000665.2:g.122285188A>T | GRCh38 |
| NC_000003.11:g.122004035A>T , CM000665.1:g.122004035A>T | GRCh37 |
| NC_000003.10:g.123486725A>T | NCBI36 |
| NG_009058.1:g.106506A>T | |
| NG_009058.2:g.106521A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490131.7:c.3003A>T | ENSP00000418685.2:p.Ser1001= | |
| ENST00000498619.4:c.3264A>T | ENSP00000420194.1:p.Ser1088= | |
| ENST00000638421.1:c.3234A>T | ENSP00000492190.1:p.Ser1078= | |
| ENST00000639785.2:c.3234A>T MANE Select | ENSP00000491584.2:p.Ser1078= | |
| ENST00000490131.5:c.3234A>T | ENSP00000418685.1:p.Ser1078= | |
| ENST00000498619.2:c.3264A>T | ENSP00000420194.1:p.Ser1088= | |
| NM_000388.3:c.3234A>T | NP_000379.2:p.Ser1078= | |
| NM_001178065.1:c.3264A>T | NP_001171536.1:p.Ser1088= | |
| XM_005247836.2:c.3234A>T | XP_005247893.1:p.Ser1078= | |
| XM_005247837.2:c.2751A>T | XP_005247894.1:p.Ser917= | |
| XM_006713789.2:c.3234A>T | XP_006713852.1:p.Ser1078= | |
| XM_011513237.1:c.3234A>T | XP_011511539.1:p.Ser1078= | |
| XM_011513238.1:c.3234A>T | XP_011511540.1:p.Ser1078= | |
| XM_011513239.1:c.2646A>T | XP_011511541.1:p.Ser882= | |
| XM_006713789.3:c.3234A>T | XP_006713852.1:p.Ser1078= | |
| XM_017007324.1:c.3234A>T | XP_016862813.1:p.Ser1078= | |
| XM_017007325.1:c.3234A>T | XP_016862814.1:p.Ser1078= | |
| NM_000388.4:c.3234A>T MANE Select | NP_000379.3:p.Ser1078= | |
| NM_001178065.2:c.3264A>T | NP_001171536.2:p.Ser1088= |