Linked Data
ClinVar Variation Id:
285563
dbSNP Id:
rs145158686
ExAC:
16:5127960 G / T
gnomAD v2:
16-5127960-G-T
gnomAD v3:
16-5077959-G-T
gnomAD v4:
16-5077959-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5077959G>T , CM000678.2:g.5077959G>T | GRCh38 |
| NC_000016.9:g.5127960G>T , CM000678.1:g.5127960G>T | GRCh37 |
| NC_000016.8:g.5067961G>T | NCBI36 |
| NG_009202.1:g.11151G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.2820G>T | ||
| ENST00000682020.1:c.88G>T | ENSP00000508075.1:p.Asp30Tyr | |
| ENST00000682206.1:c.682G>T | ENSP00000508285.1:p.Asp228Tyr | |
| ENST00000682314.1:n.726G>T | ||
| ENST00000682327.1:c.193G>T | ENSP00000507058.1:p.Asp65Tyr | |
| ENST00000682349.1:n.2820G>T | ||
| ENST00000682703.1:n.2820G>T | ||
| ENST00000682797.1:c.682G>T | ENSP00000507582.1:p.Asp228Tyr | |
| ENST00000682985.1:c.193G>T | ENSP00000507598.1:p.Asp65Tyr | |
| ENST00000683433.1:c.35+425G>T | ENSP00000507463.1:n.35+425G>T | |
| ENST00000683685.1:n.726G>T | ||
| ENST00000683710.1:c.*645G>T | ENSP00000506785.1:n.*645G>T | |
| ENST00000683739.1:c.349G>T | ENSP00000507002.1:p.Asp117Tyr | |
| ENST00000683772.1:n.726G>T | ||
| ENST00000684008.1:c.616G>T | ENSP00000507962.1:p.Asp206Tyr | |
| ENST00000684190.1:c.682G>T | ENSP00000507554.1:p.Asp228Tyr | |
| ENST00000684335.1:c.682G>T | ENSP00000508112.1:p.Asp228Tyr | |
| ENST00000262374.10:c.682G>T MANE Select | ENSP00000262374.5:p.Asp228Tyr | |
| ENST00000650085.1:n.1502G>T | ||
| ENST00000262374.9:c.682G>T | ENSP00000262374.4:p.Asp228Tyr | |
| ENST00000544428.1:c.349G>T | ENSP00000440019.1:p.Asp117Tyr | |
| ENST00000588623.5:c.349G>T | ENSP00000468118.1:p.Asp117Tyr | |
| ENST00000591783.5:c.349G>T | ENSP00000464700.1:p.Asp117Tyr | |
| ENST00000591822.5:c.*583G>T | ENSP00000467865.1:n.*583G>T | |
| NM_019109.4:c.682G>T | NP_061982.3:p.Asp228Tyr | |
| XM_011522565.1:c.349G>T | XP_011520867.1:p.Asp117Tyr | |
| XR_932882.1:n.723G>T | ||
| NM_001330504.1:c.349G>T | NP_001317433.1:p.Asp117Tyr | |
| XM_017023457.2:c.682G>T | XP_016878946.1:p.Asp228Tyr | |
| XM_017023458.1:c.349G>T | XP_016878947.1:p.Asp117Tyr | |
| XR_932882.3:n.707G>T | ||
| NM_019109.5:c.682G>T MANE Select | NP_061982.3:p.Asp228Tyr | |
| NM_001330504.2:c.349G>T | NP_001317433.1:p.Asp117Tyr |