Linked Data
dbSNP Id:
rs1350127574
gnomAD v2:
11-5275870-C-T
gnomAD v3:
11-5254640-C-T
gnomAD v4:
11-5254640-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5254640C>T , CM000673.2:g.5254640C>T | GRCh38 |
| NC_000011.9:g.5275870C>T , CM000673.1:g.5275870C>T | GRCh37 |
| NC_000011.8:g.5232446C>T | NCBI36 |
| NG_000007.3:g.42976G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336906.6:c.89G>A MANE Select | ENSP00000338082.4:p.Gly30Glu | |
| ENST00000380252.6:c.-73-126G>A | ENSP00000369602.2:n.-73-126G>A | |
| ENST00000380259.7:c.1635G>A | ENSP00000369609.3:n.1635G>A | |
| ENST00000642908.1:c.89G>A | ENSP00000495346.1:p.Gly30Glu | |
| ENST00000647543.1:c.89G>A | ENSP00000496470.1:p.Gly30Glu | |
| ENST00000336906.4:c.89G>A | ENSP00000338082.4:p.Gly30Glu | |
| ENST00000380252.5:c.63-126G>A | ENSP00000369602.1:n.63-126G>A | |
| ENST00000380259.6:c.89G>A | ENSP00000369609.2:p.Gly30Glu | |
| ENST00000444587.1:c.54+35G>A | ENSP00000488218.1:n.54+35G>A | |
| ENST00000620888.4:c.89G>A | ENSP00000479637.1:p.Gly30Glu | |
| ENST00000624109.1:c.269C>T | ENSP00000485458.1:p.Ser90Phe | |
| NM_000184.2:c.89G>A | NP_000175.1:p.Gly30Glu | |
| NM_000184.3:c.89G>A MANE Select | NP_000175.1:p.Gly30Glu |