Linked Data
ClinVar Variation Id:
2547719
ClinVar RCV Id:
RCV003242771
dbSNP Id:
rs764029645
ExAC:
16:5130973 A / T
gnomAD v2:
16-5130973-A-T
gnomAD v4:
16-5080972-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5080972A>T , CM000678.2:g.5080972A>T | GRCh38 |
| NC_000016.9:g.5130973A>T , CM000678.1:g.5130973A>T | GRCh37 |
| NC_000016.8:g.5070974A>T | NCBI36 |
| NG_009202.1:g.14164A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.3124A>T | ||
| ENST00000682020.1:c.394A>T | ENSP00000508075.1:p.Ser132Cys | |
| ENST00000682206.1:c.*80A>T | ENSP00000508285.1:n.*80A>T | |
| ENST00000682314.1:n.1036A>T | ||
| ENST00000682327.1:c.460A>T | ENSP00000507058.1:p.Ser154Cys | |
| ENST00000682349.1:n.3130A>T | ||
| ENST00000682703.1:n.3956A>T | ||
| ENST00000682797.1:c.*80A>T | ENSP00000507582.1:n.*80A>T | |
| ENST00000682985.1:c.499A>T | ENSP00000507598.1:p.Ser167Cys | |
| ENST00000683433.1:c.244A>T | ENSP00000507463.1:p.Ser82Cys | |
| ENST00000683685.1:n.1862A>T | ||
| ENST00000683710.1:c.*955A>T | ENSP00000506785.1:n.*955A>T | |
| ENST00000683739.1:c.655A>T | ENSP00000507002.1:p.Ser219Cys | |
| ENST00000683772.1:n.1032A>T | ||
| ENST00000684008.1:c.926A>T | ENSP00000507962.1:n.926A>T | |
| ENST00000684190.1:c.949A>T | ENSP00000507554.1:p.Ser317Cys | |
| ENST00000684335.1:c.961+1165A>T | ENSP00000508112.1:n.961+1165A>T | |
| ENST00000262374.10:c.988A>T MANE Select | ENSP00000262374.5:p.Ser330Cys | |
| ENST00000650085.1:n.1812A>T | ||
| ENST00000262374.9:c.988A>T | ENSP00000262374.4:p.Ser330Cys | |
| ENST00000544428.1:c.655A>T | ENSP00000440019.1:p.Ser219Cys | |
| ENST00000588623.5:c.655A>T | ENSP00000468118.1:p.Ser219Cys | |
| ENST00000591822.5:c.*889A>T | ENSP00000467865.1:n.*889A>T | |
| NM_019109.4:c.988A>T | NP_061982.3:p.Ser330Cys | |
| XM_011522565.1:c.655A>T | XP_011520867.1:p.Ser219Cys | |
| XR_932882.1:n.1033A>T | ||
| NM_001330504.1:c.655A>T | NP_001317433.1:p.Ser219Cys | |
| XM_017023457.2:c.949A>T | XP_016878946.1:p.Ser317Cys | |
| XM_017023458.1:c.655A>T | XP_016878947.1:p.Ser219Cys | |
| XR_932882.3:n.1017A>T | ||
| NM_019109.5:c.988A>T MANE Select | NP_061982.3:p.Ser330Cys | |
| NM_001330504.2:c.655A>T | NP_001317433.1:p.Ser219Cys |