Linked Data
ClinVar Variation Id:
214493
dbSNP Id:
rs774456344
ExAC:
3:158366945 G / A
gnomAD v2:
3-158366945-G-A
gnomAD v3:
3-158649156-G-A
gnomAD v4:
3-158649156-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158649156G>A , CM000665.2:g.158649156G>A | GRCh38 |
| NC_000003.11:g.158366945G>A , CM000665.1:g.158366945G>A | GRCh37 |
| NC_000003.10:g.159849639G>A | NCBI36 |
| NG_008441.1:g.9629G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.688G>A (GFM1) MANE Select | ENSP00000419038.1:p.Gly230Ser | |
| ENST00000264263.9:c.688G>A (GFM1) | ENSP00000264263.5:p.Gly230Arg | |
| ENST00000478251.1:n.176G>A (GFM1) | ||
| ENST00000478254.5:c.688G>A (GFM1) | ENSP00000417225.1:p.Gly230Ser | |
| ENST00000478576.5:c.688G>A (GFM1) | ENSP00000418755.1:p.Gly230Ser | |
| ENST00000482640.5:c.362-2947C>T (LXN) | ||
| ENST00000486715.5:c.688G>A (GFM1) | ENSP00000419038.1:p.Gly230Ser | |
| NM_001308164.1:c.688G>A (GFM1) | NP_001295093.1:p.Gly230Arg | |
| NM_001308166.1:c.688G>A (GFM1) | NP_001295095.1:p.Gly230Ser | |
| NM_024996.5:c.688G>A (GFM1) | NP_079272.4:p.Gly230Ser | |
| XM_006713795.1:c.572+2209G>A (GFM1) | XP_006713858.1:n.572+2209G>A | |
| XM_006713795.2:c.572+2209G>A (GFM1) | XP_006713858.1:n.572+2209G>A | |
| NM_001374355.1:c.688G>A (GFM1) | NP_001361284.1:p.Gly230Arg | |
| NM_001374356.1:c.572+2209G>A (GFM1) | NP_001361285.1:n.572+2209G>A | |
| NM_001374357.1:c.463G>A (GFM1) | NP_001361286.1:p.Gly155Ser | |
| NM_001374358.1:c.235-2944G>A (GFM1) | NP_001361287.1:n.235-2944G>A | |
| NM_001374359.1:c.121G>A (GFM1) | NP_001361288.1:p.Gly41Ser | |
| NM_001374360.1:c.121G>A (GFM1) | NP_001361289.1:p.Gly41Ser | |
| NM_001374361.1:c.6-2940G>A (GFM1) | NP_001361290.1:n.6-2940G>A | |
| NM_024996.7:c.688G>A (GFM1) MANE Select | NP_079272.4:p.Gly230Ser | |
| NR_164499.1:n.796G>A (GFM1) | ||
| NR_164500.1:n.796G>A (GFM1) | ||
| NR_164501.1:n.343-2940G>A (GFM1) | ||
| NR_164502.1:n.680+2209G>A (GFM1) | ||
| NM_001308164.2:c.688G>A (GFM1) | NP_001295093.1:p.Gly230Arg | |
| NM_001308166.2:c.688G>A (GFM1) | NP_001295095.1:p.Gly230Ser |