Linked Data
ClinVar Variation Id:
419632
ClinVar RCV Id:
RCV000481358
dbSNP Id:
rs1064794003
gnomAD v4:
8-93780891-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93780891G>A , CM000670.2:g.93780891G>A | GRCh38 |
| NC_000008.10:g.94793119G>A , CM000670.1:g.94793119G>A | GRCh37 |
| NC_000008.9:g.94862295G>A | NCBI36 |
| NG_009190.1:g.31048G>A , LRG_688:g.31048G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323130.8:c.887G>A | ENSP00000314488.4:p.Trp296Ter | |
| ENST00000409623.8:c.887G>A | ENSP00000386966.4:p.Trp296Ter | |
| ENST00000452276.6:c.887G>A | ENSP00000388671.2:p.Trp296Ter | |
| ENST00000453906.6:c.407-5332G>A | ENSP00000403035.2:n.407-5332G>A | |
| ENST00000520680.2:c.887G>A | ENSP00000428785.2:p.Trp296Ter | |
| ENST00000521065.2:c.*604G>A | ENSP00000427947.2:n.*604G>A | |
| ENST00000521517.6:c.887G>A | ENSP00000430740.2:p.Trp296Ter | |
| ENST00000681998.1:c.799+144G>A | ENSP00000506773.1:n.799+144G>A | |
| ENST00000682036.1:c.407-5332G>A | ENSP00000508390.1:n.407-5332G>A | |
| ENST00000682577.1:c.817G>A | ENSP00000506963.1:n.817G>A | |
| ENST00000682624.1:c.*461G>A | ENSP00000508343.1:n.*461G>A | |
| ENST00000682700.1:c.887G>A | ENSP00000507627.1:p.Trp296Ter | |
| ENST00000682744.1:n.425G>A | ||
| ENST00000682804.1:n.710G>A | ||
| ENST00000682837.1:c.624+144G>A | ENSP00000507920.1:n.624+144G>A | |
| ENST00000682935.1:n.2447G>A | ||
| ENST00000682984.1:c.548G>A | ENSP00000507209.1:p.Trp183Ter | |
| ENST00000683078.1:c.642G>A | ENSP00000506796.1:n.642G>A | |
| ENST00000683223.1:c.710+144G>A | ENSP00000507685.1:n.710+144G>A | |
| ENST00000683238.1:n.2268G>A | ||
| ENST00000683249.1:n.2484G>A | ||
| ENST00000683336.1:c.799+144G>A | ENSP00000507695.1:n.799+144G>A | |
| ENST00000683362.1:c.548G>A | ENSP00000506985.1:p.Trp183Ter | |
| ENST00000683850.1:n.810G>A | ||
| ENST00000683919.1:c.817G>A | ENSP00000507617.1:n.817G>A | |
| ENST00000683953.1:c.798G>A | ENSP00000508375.1:n.798G>A | |
| ENST00000684023.1:c.1021G>A | ENSP00000507461.1:n.1021G>A | |
| ENST00000684064.1:c.578G>A | ENSP00000508192.1:p.Trp193Ter | |
| ENST00000684089.1:n.2437G>A | ||
| ENST00000684149.1:c.*223G>A | ENSP00000507943.1:n.*223G>A | |
| ENST00000684416.1:n.846G>A | ||
| ENST00000684540.1:c.817G>A | ENSP00000507987.1:n.817G>A | |
| ENST00000453321.8:c.887G>A MANE Select | ENSP00000389998.3:p.Trp296Ter | |
| ENST00000323130.7:c.857G>A | ENSP00000314488.3:p.Trp286Ter | |
| ENST00000409623.7:c.644G>A | ENSP00000386966.3:p.Trp215Ter | |
| ENST00000425545.2:n.334G>A | ||
| ENST00000452276.5:c.578G>A | ENSP00000388671.1:p.Trp193Ter | |
| ENST00000453321.7:c.887G>A | ENSP00000389998.3:p.Trp296Ter | |
| ENST00000453906.5:c.407-5332G>A | ENSP00000403035.1:n.407-5332G>A | |
| ENST00000474944.5:n.427-5332G>A | ||
| ENST00000496213.5:n.352G>A | ||
| NM_001142301.1:c.644G>A , LRG_688t2:c.644G>A | NP_001135773.1:p.Trp215Ter | |
| NM_153704.5:c.887G>A , LRG_688t1:c.887G>A | NP_714915.3:p.Trp296Ter | |
| NR_024522.1:n.958G>A | ||
| XM_006716686.2:c.584G>A | XP_006716749.1:p.Trp195Ter | |
| XM_006716687.2:c.287G>A | XP_006716750.1:p.Trp96Ter | |
| XM_011517363.1:c.407-5332G>A | XP_011515665.1:n.407-5332G>A | |
| XR_428387.1:n.945G>A | ||
| XR_928360.1:n.945G>A | ||
| XR_928361.1:n.945G>A | ||
| XR_928362.1:n.945G>A | ||
| XM_006716686.4:c.584G>A | XP_006716749.1:p.Trp195Ter | |
| XM_011517363.3:c.407-5332G>A | XP_011515665.1:n.407-5332G>A | |
| XM_024447326.1:c.233G>A | XP_024303094.1:p.Trp78Ter | |
| XR_001745619.2:n.928G>A | ||
| XR_428387.2:n.928G>A | ||
| XR_928360.3:n.928G>A | ||
| XR_928362.3:n.928G>A | ||
| NM_153704.6:c.887G>A MANE Select | NP_714915.3:p.Trp296Ter | |
| NR_024522.2:n.908G>A |