Linked Data
dbSNP Id:
rs779033742
ExAC:
11:1908777 G / A
gnomAD v2:
11-1908777-G-A
gnomAD v4:
11-1887547-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1887547G>A , CM000673.2:g.1887547G>A | GRCh38 |
| NC_000011.9:g.1908777G>A , CM000673.1:g.1908777G>A | GRCh37 |
| NC_000011.8:g.1865353G>A | NCBI36 |
| NG_011509.1:g.39578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311604.8:c.1004G>A MANE Select | ENSP00000308383.4:p.Gly335Glu | |
| ENST00000311604.7:c.1004G>A | ENSP00000308383.3:p.Gly335Glu | |
| ENST00000381775.5:c.1388G>A | ENSP00000371194.1:p.Gly463Glu | |
| ENST00000405957.6:c.818G>A | ENSP00000383932.2:p.Gly273Glu | |
| ENST00000406638.6:c.818G>A | ENSP00000384022.2:p.Gly273Glu | |
| ENST00000472974.5:n.874G>A | ||
| ENST00000485341.5:n.1500G>A | ||
| ENST00000612798.4:c.818G>A | ENSP00000484140.1:p.Gly273Glu | |
| NM_001013253.1:c.818G>A | NP_001013271.1:p.Gly273Glu | |
| NM_001013254.1:c.818G>A | NP_001013272.1:p.Gly273Glu | |
| NM_001013255.1:c.818G>A | NP_001013273.1:p.Gly273Glu | |
| NM_001242932.1:c.1388G>A | NP_001229861.1:p.Gly463Glu | |
| NM_001289005.1:c.818G>A | NP_001275934.1:p.Gly273Glu | |
| NM_002339.2:c.1004G>A | NP_002330.1:p.Gly335Glu | |
| NM_001013253.2:c.818G>A | NP_001013271.1:p.Gly273Glu | |
| NM_002339.3:c.1004G>A MANE Select | NP_002330.1:p.Gly335Glu | |
| NM_001242932.2:c.1388G>A | NP_001229861.1:p.Gly463Glu | |
| NM_001289005.2:c.818G>A | NP_001275934.1:p.Gly273Glu |