Linked Data
ClinVar Variation Id:
2676482
ClinVar RCV Id:
RCV003470076
dbSNP Id:
rs773115035
ExAC:
5:70931027 A / G
gnomAD v2:
5-70931027-A-G
gnomAD v3:
5-71635200-A-G
gnomAD v4:
5-71635200-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.71635200A>G , CM000667.2:g.71635200A>G | GRCh38 |
| NC_000005.9:g.70931027A>G , CM000667.1:g.70931027A>G | GRCh37 |
| NC_000005.8:g.70966783A>G | NCBI36 |
| NG_008882.1:g.52913A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505435.4:n.909A>G | ||
| ENST00000505787.8:n.2793A>G | ||
| ENST00000509358.7:c.953A>G | ENSP00000420994.3:p.Tyr318Cys | |
| ENST00000509539.3:c.215A>G | ENSP00000425474.3:p.Tyr72Cys | |
| ENST00000510895.7:n.1076A>G | ||
| ENST00000629193.3:c.839A>G | ENSP00000486535.2:p.Tyr280Cys | |
| ENST00000681968.1:c.446A>G | ENSP00000508143.1:p.Tyr149Cys | |
| ENST00000682045.1:c.809A>G | ENSP00000507329.1:p.Tyr270Cys | |
| ENST00000682214.1:c.560A>G | ENSP00000507336.1:p.Tyr187Cys | |
| ENST00000682499.1:n.1774A>G | ||
| ENST00000682541.1:c.953A>G | ENSP00000507673.1:p.Tyr318Cys | |
| ENST00000682687.1:c.953A>G | ENSP00000507945.1:p.Tyr318Cys | |
| ENST00000682727.1:c.953A>G | ENSP00000507393.1:p.Tyr318Cys | |
| ENST00000682876.1:c.1082A>G | ENSP00000508389.1:p.Tyr361Cys | |
| ENST00000683098.1:c.803+3015A>G | ENSP00000507670.1:n.803+3015A>G | |
| ENST00000683258.1:c.*674A>G | ENSP00000507448.1:n.*674A>G | |
| ENST00000683339.1:c.737A>G | ENSP00000507758.1:p.Tyr246Cys | |
| ENST00000683403.1:c.863A>G | ENSP00000507896.1:p.Tyr288Cys | |
| ENST00000683429.1:c.560A>G | ENSP00000507697.1:p.Tyr187Cys | |
| ENST00000683665.1:c.953A>G | ENSP00000507068.1:p.Tyr318Cys | |
| ENST00000683789.1:c.839A>G | ENSP00000507012.1:p.Tyr280Cys | |
| ENST00000683847.1:n.797A>G | ||
| ENST00000683882.1:c.953A>G | ENSP00000506735.1:p.Tyr318Cys | |
| ENST00000684024.1:c.*624A>G | ENSP00000507175.1:n.*624A>G | |
| ENST00000684254.1:c.*679A>G | ENSP00000508001.1:n.*679A>G | |
| ENST00000684310.1:c.165+158A>G | ENSP00000507550.1:n.165+158A>G | |
| ENST00000684530.1:c.215A>G | ENSP00000507439.1:p.Tyr72Cys | |
| ENST00000684652.1:n.1955A>G | ||
| ENST00000340941.11:c.953A>G MANE Select | ENSP00000343657.6:p.Tyr318Cys | |
| ENST00000340941.10:c.953A>G | ENSP00000343657.6:p.Tyr318Cys | |
| ENST00000505435.3:n.304A>G | ||
| ENST00000509358.6:c.953A>G | ENSP00000420994.2:p.Tyr318Cys | |
| ENST00000509539.2:c.278A>G | ENSP00000425474.2:p.Tyr93Cys | |
| ENST00000510895.6:n.567A>G | ||
| ENST00000512218.6:c.839A>G | ENSP00000423202.2:p.Tyr280Cys | |
| ENST00000629193.2:c.839A>G | ENSP00000486535.1:p.Tyr280Cys | |
| NM_022132.4:c.953A>G | NP_071415.1:p.Tyr318Cys | |
| XM_005248567.1:c.839A>G | XP_005248624.1:p.Tyr280Cys | |
| XM_011543528.1:c.953A>G | XP_011541830.1:p.Tyr318Cys | |
| XM_011543529.1:c.953A>G | XP_011541831.1:p.Tyr318Cys | |
| NM_001363147.1:c.839A>G | NP_001350076.1:p.Tyr280Cys | |
| XM_011543529.2:c.953A>G | XP_011541831.1:p.Tyr318Cys | |
| XM_017009688.1:c.953A>G | XP_016865177.1:p.Tyr318Cys | |
| XR_001742172.1:n.993A>G | ||
| NM_022132.5:c.953A>G MANE Select | NP_071415.1:p.Tyr318Cys |