Linked Data
ClinVar Variation Id:
510630
ClinVar RCV Id:
RCV000610144
dbSNP Id:
rs80108685
ExAC:
8:94767139 T / G
gnomAD v2:
8-94767139-T-G
gnomAD v3:
8-93754911-T-G
gnomAD v4:
8-93754911-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.93754911T>G , CM000670.2:g.93754911T>G | GRCh38 |
| NC_000008.10:g.94767139T>G , CM000670.1:g.94767139T>G | GRCh37 |
| NC_000008.9:g.94836315T>G | NCBI36 |
| NG_009190.1:g.5068T>G , LRG_688:g.5068T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409623.8:c.-4T>G | ENSP00000386966.4:n.-4T>G | |
| ENST00000453906.6:c.-4T>G | ENSP00000403035.2:n.-4T>G | |
| ENST00000520680.2:c.-4T>G | ENSP00000428785.2:n.-4T>G | |
| ENST00000521065.2:c.-4T>G | ENSP00000427947.2:n.-4T>G | |
| ENST00000682036.1:c.-4T>G | ENSP00000508390.1:n.-4T>G | |
| ENST00000682624.1:c.-4T>G | ENSP00000508343.1:n.-4T>G | |
| ENST00000682804.1:n.25+2T>G | ||
| ENST00000682984.1:c.-4T>G | ENSP00000507209.1:n.-4T>G | |
| ENST00000683249.1:n.18T>G | ||
| ENST00000683362.1:c.-4T>G | ENSP00000506985.1:n.-4T>G | |
| ENST00000684064.1:c.-205+2T>G | ENSP00000508192.1:n.-205+2T>G | |
| ENST00000684149.1:c.-4T>G | ENSP00000507943.1:n.-4T>G | |
| ENST00000684416.1:n.23+2T>G | ||
| ENST00000684733.1:n.21T>G | ||
| ENST00000453321.8:c.-4T>G MANE Select | ENSP00000389998.3:n.-4T>G | |
| ENST00000409623.7:c.-180+2T>G | ENSP00000386966.3:n.-180+2T>G | |
| ENST00000452276.5:c.-205+2T>G | ENSP00000388671.1:n.-205+2T>G | |
| ENST00000453321.7:c.-4T>G | ENSP00000389998.3:n.-4T>G | |
| ENST00000453906.5:c.-4T>G | ENSP00000403035.1:n.-4T>G | |
| ENST00000455946.5:c.-4T>G | ENSP00000416339.1:n.-4T>G | |
| ENST00000474944.5:n.17T>G | ||
| ENST00000475305.1:n.6T>G | ||
| ENST00000498673.5:c.-418+2T>G | ENSP00000430232.1:n.-418+2T>G | |
| ENST00000518319.5:c.-411+2T>G | ENSP00000430289.1:n.-411+2T>G | |
| ENST00000521222.5:c.-4T>G | ENSP00000429925.1:n.-4T>G | |
| NM_001142301.1:c.-180+2T>G , LRG_688t2:c.-180+2T>G | NP_001135773.1:n.-180+2T>G | |
| NM_153704.5:c.-4T>G , LRG_688t1:c.-4T>G | NP_714915.3:n.-4T>G | |
| NR_024522.1:n.68T>G | ||
| XM_011517363.1:c.-4T>G | XP_011515665.1:n.-4T>G | |
| XR_428387.1:n.55T>G | ||
| XR_928360.1:n.55T>G | ||
| XR_928361.1:n.55T>G | ||
| XR_928362.1:n.55T>G | ||
| XM_011517363.3:c.-4T>G | XP_011515665.1:n.-4T>G | |
| XR_001745619.2:n.38T>G | ||
| XR_428387.2:n.38T>G | ||
| XR_928360.3:n.38T>G | ||
| XR_928362.3:n.38T>G | ||
| NM_153704.6:c.-4T>G MANE Select | NP_714915.3:n.-4T>G | |
| NR_024522.2:n.18T>G |