Linked Data
ClinVar Variation Id:
377921
dbSNP Id:
rs149454742
ExAC:
3:158383239 A / G
gnomAD v2:
3-158383239-A-G
gnomAD v3:
3-158665450-A-G
gnomAD v4:
3-158665450-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158665450A>G , CM000665.2:g.158665450A>G | GRCh38 |
| NC_000003.11:g.158383239A>G , CM000665.1:g.158383239A>G | GRCh37 |
| NC_000003.10:g.159865933A>G | NCBI36 |
| NG_008441.1:g.25923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.1494A>G (GFM1) MANE Select | ENSP00000419038.1:p.Glu498= | |
| ENST00000264263.9:c.1551A>G (GFM1) | ENSP00000264263.5:p.Glu517= | |
| ENST00000478254.5:c.*134A>G (GFM1) | ENSP00000417225.1:n.*134A>G | |
| ENST00000478576.5:c.1494A>G (GFM1) | ENSP00000418755.1:p.Glu498= | |
| ENST00000482640.5:c.361+1562T>C (LXN) | ||
| ENST00000486715.5:c.1494A>G (GFM1) | ENSP00000419038.1:p.Glu498= | |
| NM_001308164.1:c.1551A>G (GFM1) | NP_001295093.1:p.Glu517= | |
| NM_001308166.1:c.1494A>G (GFM1) | NP_001295095.1:p.Glu498= | |
| NM_024996.5:c.1494A>G (GFM1) | NP_079272.4:p.Glu498= | |
| XM_006713795.1:c.1377A>G (GFM1) | XP_006713858.1:p.Glu459= | |
| XM_006713795.2:c.1377A>G (GFM1) | XP_006713858.1:p.Glu459= | |
| NM_001374355.1:c.1413A>G (GFM1) | NP_001361284.1:p.Glu471= | |
| NM_001374356.1:c.1377A>G (GFM1) | NP_001361285.1:p.Glu459= | |
| NM_001374357.1:c.1269A>G (GFM1) | NP_001361286.1:p.Glu423= | |
| NM_001374358.1:c.1035A>G (GFM1) | NP_001361287.1:p.Glu345= | |
| NM_001374359.1:c.927A>G (GFM1) | NP_001361288.1:p.Glu309= | |
| NM_001374360.1:c.927A>G (GFM1) | NP_001361289.1:p.Glu309= | |
| NM_001374361.1:c.810A>G (GFM1) | NP_001361290.1:p.Glu270= | |
| NM_024996.7:c.1494A>G (GFM1) MANE Select | NP_079272.4:p.Glu498= | |
| NR_164499.1:n.1517A>G (GFM1) | ||
| NR_164500.1:n.1602A>G (GFM1) | ||
| NR_164501.1:n.1147A>G (GFM1) | ||
| NR_164502.1:n.1481A>G (GFM1) | ||
| NM_001308164.2:c.1551A>G (GFM1) | NP_001295093.1:p.Glu517= | |
| NM_001308166.2:c.1494A>G (GFM1) | NP_001295095.1:p.Glu498= |