Linked Data
dbSNP Id:
rs2130092109
gnomAD v4:
8-127738259-G-A
MyVariant Identifiers:
chr8:g.128750505G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.127738259G>A , CM000670.2:g.127738259G>A | GRCh38 |
| NC_000008.10:g.128750505G>A , CM000670.1:g.128750505G>A | GRCh37 |
| NC_000008.9:g.128819687G>A | NCBI36 |
| NG_007161.1:g.7190G>A | |
| NG_007161.2:g.7826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707113.1:c.-4G>A | ENSP00000516742.1:n.-4G>A | |
| ENST00000707114.1:c.-4G>A | ENSP00000516743.1:n.-4G>A | |
| ENST00000707115.1:c.-4G>A | ENSP00000516744.1:n.-4G>A | |
| ENST00000707116.1:c.-4G>A | ENSP00000516745.1:n.-4G>A | |
| ENST00000517291.2:c.39G>A | ENSP00000429441.2:p.Ala13= | |
| ENST00000524013.2:c.39G>A | ENSP00000430235.2:p.Ala13= | |
| ENST00000621592.8:c.42G>A MANE Select | ENSP00000478887.2:p.Ala14= | |
| ENST00000651626.1:c.-283-21G>A | ENSP00000499182.1:n.-283-21G>A | |
| ENST00000652288.1:c.-4G>A | ENSP00000499105.1:n.-4G>A | |
| ENST00000259523.10:c.-4G>A | ENSP00000259523.6:n.-4G>A | |
| ENST00000377970.6:c.-4G>A | ENSP00000367207.3:n.-4G>A | |
| ENST00000517291.1:c.39G>A | ENSP00000429441.1:p.Ala13= | |
| ENST00000520751.1:c.-5-33G>A | ENSP00000430226.1:n.-5-33G>A | |
| ENST00000524013.1:c.39G>A | ENSP00000430235.1:p.Ala13= | |
| ENST00000613283.1:c.42G>A | ENSP00000479618.1:p.Ala14= | |
| ENST00000621592.5:c.42G>A | ENSP00000478887.1:p.Ala14= | |
| NM_002467.4:c.42G>A | NP_002458.2:p.Ala14= | |
| NM_001354870.1:c.39G>A | NP_001341799.1:p.Ala13= | |
| NM_002467.5:c.42G>A | NP_002458.2:p.Ala14= | |
| NM_002467.6:c.42G>A MANE Select | NP_002458.2:p.Ala14= |