Linked Data
ClinVar Variation Id:
6035
dbSNP Id:
rs62541771
ExAC:
9:36218221 G / A
gnomAD v2:
9-36218221-G-A
gnomAD v3:
9-36218224-G-A
gnomAD v4:
9-36218224-G-A
PubMed:
PMID:12177386
PMID:12473753
PMID:12473769
PMID:12497639
PMID:14707127
PMID:14972325
PMID:15793292
PMID:15987957
PMID:16112887
PMID:16503651
PMID:17261181
PMID:19841673
PMID:20059379
PMID:21131200
PMID:21307865
PMID:21517694
PMID:22196754
PMID:22343627
PMID:22507750
PMID:22883483
PMID:24695763
PMID:25123033
PMID:25303967
PMID:26968811
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.36218224G>A , CM000671.2:g.36218224G>A | GRCh38 |
| NC_000009.11:g.36218221G>A , CM000671.1:g.36218221G>A | GRCh37 |
| NC_000009.10:g.36208221G>A | NCBI36 |
| NG_008246.1:g.63821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396594.8:c.1985C>T (GNE) MANE Plus Clinical | ENSP00000379839.3:p.Ala662Val | |
| ENST00000543356.7:c.1715C>T (GNE) | ENSP00000437765.3:p.Ala572Val | |
| ENST00000642385.2:c.1892C>T (GNE) MANE Select | ENSP00000494141.2:p.Ala631Val | |
| ENST00000377902.5:c.1892C>T (GNE) | ENSP00000367134.4:p.Ala631Val | |
| ENST00000396594.7:c.1985C>T (GNE) | ENSP00000379839.3:p.Ala662Val | |
| ENST00000447283.6:c.1670C>T (GNE) | ENSP00000414760.2:p.Ala557Val | |
| ENST00000464497.5:c.485+14045G>A (CLTA) | ENSP00000419158.1:n.485+14045G>A | |
| ENST00000539208.5:c.1562C>T (GNE) | ENSP00000445117.1:p.Ala521Val | |
| ENST00000539815.5:c.1892C>T (GNE) | ENSP00000439155.1:p.Ala631Val | |
| ENST00000543356.6:c.1877C>T (GNE) | ENSP00000437765.2:p.Ala626Val | |
| NM_001128227.2:c.1985C>T (GNE) | NP_001121699.1:p.Ala662Val | |
| NM_001190383.1:c.1670C>T (GNE) | NP_001177312.1:p.Ala557Val | |
| NM_001190384.1:c.1562C>T (GNE) | NP_001177313.1:p.Ala521Val | |
| NM_001190388.1:c.1877C>T (GNE) | NP_001177317.1:p.Ala626Val | |
| NM_005476.5:c.1892C>T (GNE) | NP_005467.1:p.Ala631Val | |
| XM_005251334.3:c.1832C>T (GNE) | XP_005251391.1:p.Ala611Val | |
| NM_001190383.2:c.1670C>T (GNE) | NP_001177312.1:p.Ala557Val | |
| NM_001190384.2:c.1562C>T (GNE) | NP_001177313.1:p.Ala521Val | |
| NM_005476.6:c.1892C>T (GNE) | NP_005467.1:p.Ala631Val | |
| XM_005251334.4:c.1832C>T (GNE) | XP_005251391.1:p.Ala611Val | |
| XM_017014167.1:c.1892C>T (GNE) | XP_016869656.1:p.Ala631Val | |
| XM_017014168.1:c.1739C>T (GNE) | XP_016869657.1:p.Ala580Val | |
| NM_001128227.3:c.1985C>T (GNE) MANE Plus Clinical | NP_001121699.1:p.Ala662Val | |
| NM_001190383.3:c.1670C>T (GNE) | NP_001177312.1:p.Ala557Val | |
| NM_001190384.3:c.1562C>T (GNE) | NP_001177313.1:p.Ala521Val | |
| NM_001190388.2:c.1715C>T (GNE) | NP_001177317.2:p.Ala572Val | |
| NM_001374797.1:c.1739C>T (GNE) | NP_001361726.1:p.Ala580Val | |
| NM_001374798.1:c.1715C>T (GNE) | NP_001361727.1:p.Ala572Val | |
| NM_005476.7:c.1892C>T (GNE) MANE Select | NP_005467.1:p.Ala631Val |