Linked Data
ClinVar Variation Id:
214492
dbSNP Id:
rs191462023
ExAC:
3:158366879 G / A
gnomAD v2:
3-158366879-G-A
gnomAD v3:
3-158649090-G-A
gnomAD v4:
3-158649090-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158649090G>A , CM000665.2:g.158649090G>A | GRCh38 |
| NC_000003.11:g.158366879G>A , CM000665.1:g.158366879G>A | GRCh37 |
| NC_000003.10:g.159849573G>A | NCBI36 |
| NG_008441.1:g.9563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.622G>A (GFM1) MANE Select | ENSP00000419038.1:p.Glu208Lys | |
| ENST00000264263.9:c.622G>A (GFM1) | ENSP00000264263.5:p.Glu208Lys | |
| ENST00000478251.1:n.110G>A (GFM1) | ||
| ENST00000478254.5:c.622G>A (GFM1) | ENSP00000417225.1:p.Glu208Lys | |
| ENST00000478576.5:c.622G>A (GFM1) | ENSP00000418755.1:p.Glu208Lys | |
| ENST00000482640.5:c.362-2881C>T (LXN) | ||
| ENST00000486715.5:c.622G>A (GFM1) | ENSP00000419038.1:p.Glu208Lys | |
| NM_001308164.1:c.622G>A (GFM1) | NP_001295093.1:p.Glu208Lys | |
| NM_001308166.1:c.622G>A (GFM1) | NP_001295095.1:p.Glu208Lys | |
| NM_024996.5:c.622G>A (GFM1) | NP_079272.4:p.Glu208Lys | |
| XM_006713795.1:c.572+2143G>A (GFM1) | XP_006713858.1:n.572+2143G>A | |
| XM_006713795.2:c.572+2143G>A (GFM1) | XP_006713858.1:n.572+2143G>A | |
| NM_001374355.1:c.622G>A (GFM1) | NP_001361284.1:p.Glu208Lys | |
| NM_001374356.1:c.572+2143G>A (GFM1) | NP_001361285.1:n.572+2143G>A | |
| NM_001374357.1:c.397G>A (GFM1) | NP_001361286.1:p.Glu133Lys | |
| NM_001374358.1:c.235-3010G>A (GFM1) | NP_001361287.1:n.235-3010G>A | |
| NM_001374359.1:c.55G>A (GFM1) | NP_001361288.1:p.Glu19Lys | |
| NM_001374360.1:c.55G>A (GFM1) | NP_001361289.1:p.Glu19Lys | |
| NM_001374361.1:c.6-3006G>A (GFM1) | NP_001361290.1:n.6-3006G>A | |
| NM_024996.7:c.622G>A (GFM1) MANE Select | NP_079272.4:p.Glu208Lys | |
| NR_164499.1:n.730G>A (GFM1) | ||
| NR_164500.1:n.730G>A (GFM1) | ||
| NR_164501.1:n.343-3006G>A (GFM1) | ||
| NR_164502.1:n.680+2143G>A (GFM1) | ||
| NM_001308164.2:c.622G>A (GFM1) | NP_001295093.1:p.Glu208Lys | |
| NM_001308166.2:c.622G>A (GFM1) | NP_001295095.1:p.Glu208Lys |