Linked Data
ClinVar Variation Id:
56787
dbSNP Id:
rs386834205
ExAC:
8:94784840 G / A
gnomAD v2:
8-94784840-G-A
gnomAD v3:
8-93772612-G-A
gnomAD v4:
8-93772612-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93772612G>A , CM000670.2:g.93772612G>A | GRCh38 |
| NC_000008.10:g.94784840G>A , CM000670.1:g.94784840G>A | GRCh37 |
| NC_000008.9:g.94854016G>A | NCBI36 |
| NG_009190.1:g.22769G>A , LRG_688:g.22769G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323130.8:c.675G>A | ENSP00000314488.4:p.Trp225Ter | |
| ENST00000409623.8:c.675G>A | ENSP00000386966.4:p.Trp225Ter | |
| ENST00000452276.6:c.675G>A | ENSP00000388671.2:p.Trp225Ter | |
| ENST00000453906.6:c.407-13611G>A | ENSP00000403035.2:n.407-13611G>A | |
| ENST00000520680.2:c.675G>A | ENSP00000428785.2:p.Trp225Ter | |
| ENST00000521065.2:c.*392G>A | ENSP00000427947.2:n.*392G>A | |
| ENST00000521517.6:c.675G>A | ENSP00000430740.2:p.Trp225Ter | |
| ENST00000681998.1:c.605G>A | ENSP00000506773.1:n.605G>A | |
| ENST00000682036.1:c.407-13611G>A | ENSP00000508390.1:n.407-13611G>A | |
| ENST00000682577.1:c.605G>A | ENSP00000506963.1:n.605G>A | |
| ENST00000682624.1:c.*249G>A | ENSP00000508343.1:n.*249G>A | |
| ENST00000682700.1:c.675G>A | ENSP00000507627.1:p.Trp225Ter | |
| ENST00000682804.1:n.498G>A | ||
| ENST00000682837.1:c.430G>A | ENSP00000507920.1:p.Val144Ile | |
| ENST00000682935.1:n.2235G>A | ||
| ENST00000682984.1:c.336G>A | ENSP00000507209.1:p.Trp112Ter | |
| ENST00000683078.1:c.430G>A | ENSP00000506796.1:p.Val144Ile | |
| ENST00000683223.1:c.516G>A | ENSP00000507685.1:n.516G>A | |
| ENST00000683238.1:n.2056G>A | ||
| ENST00000683249.1:n.2256G>A | ||
| ENST00000683336.1:c.605G>A | ENSP00000507695.1:n.605G>A | |
| ENST00000683362.1:c.336G>A | ENSP00000506985.1:p.Trp112Ter | |
| ENST00000683850.1:n.598G>A | ||
| ENST00000683919.1:c.605G>A | ENSP00000507617.1:n.605G>A | |
| ENST00000683953.1:c.586G>A | ENSP00000508375.1:n.586G>A | |
| ENST00000684023.1:c.809G>A | ENSP00000507461.1:n.809G>A | |
| ENST00000684064.1:c.366G>A | ENSP00000508192.1:p.Trp122Ter | |
| ENST00000684089.1:n.2225G>A | ||
| ENST00000684149.1:c.*11G>A | ENSP00000507943.1:n.*11G>A | |
| ENST00000684416.1:n.634G>A | ||
| ENST00000684540.1:c.605G>A | ENSP00000507987.1:n.605G>A | |
| ENST00000453321.8:c.675G>A MANE Select | ENSP00000389998.3:p.Trp225Ter | |
| ENST00000323130.7:c.645G>A | ENSP00000314488.3:p.Trp215Ter | |
| ENST00000409623.7:c.432G>A | ENSP00000386966.3:p.Trp144Ter | |
| ENST00000425545.2:n.122G>A | ||
| ENST00000452276.5:c.366G>A | ENSP00000388671.1:p.Trp122Ter | |
| ENST00000453321.7:c.675G>A | ENSP00000389998.3:p.Trp225Ter | |
| ENST00000453906.5:c.407-13611G>A | ENSP00000403035.1:n.407-13611G>A | |
| ENST00000474944.5:n.427-13611G>A | ||
| ENST00000496213.5:n.140G>A | ||
| NM_001142301.1:c.432G>A , LRG_688t2:c.432G>A | NP_001135773.1:p.Trp144Ter | |
| NM_153704.5:c.675G>A , LRG_688t1:c.675G>A | NP_714915.3:p.Trp225Ter | |
| NR_024522.1:n.746G>A | ||
| XM_006716686.2:c.372G>A | XP_006716749.1:p.Trp124Ter | |
| XM_006716687.2:c.75G>A | XP_006716750.1:p.Trp25Ter | |
| XM_011517363.1:c.407-13611G>A | XP_011515665.1:n.407-13611G>A | |
| XR_428387.1:n.733G>A | ||
| XR_928360.1:n.733G>A | ||
| XR_928361.1:n.733G>A | ||
| XR_928362.1:n.733G>A | ||
| XM_006716686.4:c.372G>A | XP_006716749.1:p.Trp124Ter | |
| XM_011517363.3:c.407-13611G>A | XP_011515665.1:n.407-13611G>A | |
| XM_024447326.1:c.21G>A | XP_024303094.1:p.Trp7Ter | |
| XR_001745619.2:n.716G>A | ||
| XR_428387.2:n.716G>A | ||
| XR_928360.3:n.716G>A | ||
| XR_928362.3:n.716G>A | ||
| NM_153704.6:c.675G>A MANE Select | NP_714915.3:p.Trp225Ter | |
| NR_024522.2:n.696G>A |