Linked Data
ClinVar Variation Id:
30537
ClinVar RCV Id:
RCV000023494
dbSNP Id:
rs387906926
PubMed:
PMID:20679665
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.5075431G>A , CM000678.2:g.5075431G>A | GRCh38 |
| NC_000016.9:g.5125432G>A , CM000678.1:g.5125432G>A | GRCh37 |
| NC_000016.8:g.5065433G>A | NCBI36 |
| NG_009202.1:g.8623G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000592793.6:n.2572G>A | ||
| ENST00000682020.1:c.-55-2014G>A | ENSP00000508075.1:n.-55-2014G>A | |
| ENST00000682206.1:c.434G>A | ENSP00000508285.1:p.Gly145Asp | |
| ENST00000682314.1:n.478G>A | ||
| ENST00000682327.1:c.-56G>A | ENSP00000507058.1:n.-56G>A | |
| ENST00000682349.1:n.2572G>A | ||
| ENST00000682703.1:n.2572G>A | ||
| ENST00000682797.1:c.434G>A | ENSP00000507582.1:p.Gly145Asp | |
| ENST00000682985.1:c.-56G>A | ENSP00000507598.1:n.-56G>A | |
| ENST00000683433.1:c.-55-2014G>A | ENSP00000507463.1:n.-55-2014G>A | |
| ENST00000683685.1:n.478G>A | ||
| ENST00000683710.1:c.*397G>A | ENSP00000506785.1:n.*397G>A | |
| ENST00000683739.1:c.101G>A | ENSP00000507002.1:p.Gly34Asp | |
| ENST00000683772.1:n.478G>A | ||
| ENST00000684008.1:c.368G>A | ENSP00000507962.1:p.Gly123Asp | |
| ENST00000684190.1:c.434G>A | ENSP00000507554.1:p.Gly145Asp | |
| ENST00000684335.1:c.434G>A | ENSP00000508112.1:p.Gly145Asp | |
| ENST00000262374.10:c.434G>A MANE Select | ENSP00000262374.5:p.Gly145Asp | |
| ENST00000650085.1:n.1254G>A | ||
| ENST00000262374.9:c.434G>A | ENSP00000262374.4:p.Gly145Asp | |
| ENST00000544428.1:c.101G>A | ENSP00000440019.1:p.Gly34Asp | |
| ENST00000586840.1:c.424G>A | ENSP00000467538.1:p.Ala142Thr | |
| ENST00000588623.5:c.101G>A | ENSP00000468118.1:p.Gly34Asp | |
| ENST00000591783.5:c.101G>A | ENSP00000464700.1:p.Gly34Asp | |
| ENST00000591822.5:c.*335G>A | ENSP00000467865.1:n.*335G>A | |
| NM_019109.4:c.434G>A | NP_061982.3:p.Gly145Asp | |
| XM_011522565.1:c.101G>A | XP_011520867.1:p.Gly34Asp | |
| XR_932882.1:n.475G>A | ||
| NM_001330504.1:c.101G>A | NP_001317433.1:p.Gly34Asp | |
| XM_017023457.2:c.434G>A | XP_016878946.1:p.Gly145Asp | |
| XM_017023458.1:c.101G>A | XP_016878947.1:p.Gly34Asp | |
| XR_932882.3:n.459G>A | ||
| NM_019109.5:c.434G>A MANE Select | NP_061982.3:p.Gly145Asp | |
| NM_001330504.2:c.101G>A | NP_001317433.1:p.Gly34Asp |