Linked Data
ClinVar Variation Id:
237758
ClinVar RCV Id:
RCV000251515
RCV000281394
RCV000312098
RCV000337880
RCV000390791
RCV000727289
RCV001081459
RCV001838993
RCV002255323
RCV002318969
dbSNP Id:
rs115230894
ExAC:
3:122000982 G / A
gnomAD v2:
3-122000982-G-A
gnomAD v3:
3-122282135-G-A
gnomAD v4:
3-122282135-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122282135G>A , CM000665.2:g.122282135G>A | GRCh38 |
| NC_000003.11:g.122000982G>A , CM000665.1:g.122000982G>A | GRCh37 |
| NC_000003.10:g.123483672G>A | NCBI36 |
| NG_009058.1:g.103453G>A | |
| NG_009058.2:g.103468G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.1400G>A | ENSP00000418685.2:p.Arg467Gln | |
| ENST00000498619.4:c.1661G>A | ENSP00000420194.1:p.Arg554Gln | |
| ENST00000638421.1:c.1631G>A | ENSP00000492190.1:p.Arg544Gln | |
| ENST00000639785.2:c.1631G>A MANE Select | ENSP00000491584.2:p.Arg544Gln | |
| ENST00000490131.5:c.1631G>A | ENSP00000418685.1:p.Arg544Gln | |
| ENST00000498619.2:c.1661G>A | ENSP00000420194.1:p.Arg554Gln | |
| NM_000388.3:c.1631G>A | NP_000379.2:p.Arg544Gln | |
| NM_001178065.1:c.1661G>A | NP_001171536.1:p.Arg554Gln | |
| XM_005247836.2:c.1631G>A | XP_005247893.1:p.Arg544Gln | |
| XM_005247837.2:c.1148G>A | XP_005247894.1:p.Arg383Gln | |
| XM_006713789.2:c.1631G>A | XP_006713852.1:p.Arg544Gln | |
| XM_011513237.1:c.1631G>A | XP_011511539.1:p.Arg544Gln | |
| XM_011513238.1:c.1631G>A | XP_011511540.1:p.Arg544Gln | |
| XM_011513239.1:c.1043G>A | XP_011511541.1:p.Arg348Gln | |
| XM_006713789.3:c.1631G>A | XP_006713852.1:p.Arg544Gln | |
| XM_017007324.1:c.1631G>A | XP_016862813.1:p.Arg544Gln | |
| XM_017007325.1:c.1631G>A | XP_016862814.1:p.Arg544Gln | |
| NM_000388.4:c.1631G>A MANE Select | NP_000379.3:p.Arg544Gln | |
| NM_001178065.2:c.1661G>A | NP_001171536.2:p.Arg554Gln |