Linked Data
ClinVar Variation Id:
343927
dbSNP Id:
rs763546447
ExAC:
3:158371155 C / T
gnomAD v2:
3-158371155-C-T
gnomAD v3:
3-158653366-C-T
gnomAD v4:
3-158653366-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158653366C>T , CM000665.2:g.158653366C>T | GRCh38 |
| NC_000003.11:g.158371155C>T , CM000665.1:g.158371155C>T | GRCh37 |
| NC_000003.10:g.159853849C>T | NCBI36 |
| NG_008441.1:g.13839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.897C>T (GFM1) MANE Select | ENSP00000419038.1:p.Ser299= | |
| ENST00000264263.9:c.954C>T (GFM1) | ENSP00000264263.5:p.Ser318= | |
| ENST00000312756.4:n.106C>T (GFM1) | ||
| ENST00000478254.5:c.897C>T (GFM1) | ENSP00000417225.1:p.Ser299= | |
| ENST00000478576.5:c.897C>T (GFM1) | ENSP00000418755.1:p.Ser299= | |
| ENST00000482640.5:c.362-7157G>A (LXN) | ||
| ENST00000486715.5:c.897C>T (GFM1) | ENSP00000419038.1:p.Ser299= | |
| NM_001308164.1:c.954C>T (GFM1) | NP_001295093.1:p.Ser318= | |
| NM_001308166.1:c.897C>T (GFM1) | NP_001295095.1:p.Ser299= | |
| NM_024996.5:c.897C>T (GFM1) | NP_079272.4:p.Ser299= | |
| XM_006713795.1:c.780C>T (GFM1) | XP_006713858.1:p.Ser260= | |
| XM_006713795.2:c.780C>T (GFM1) | XP_006713858.1:p.Ser260= | |
| NM_001374355.1:c.954C>T (GFM1) | NP_001361284.1:p.Ser318= | |
| NM_001374356.1:c.780C>T (GFM1) | NP_001361285.1:p.Ser260= | |
| NM_001374357.1:c.672C>T (GFM1) | NP_001361286.1:p.Ser224= | |
| NM_001374358.1:c.438C>T (GFM1) | NP_001361287.1:p.Ser146= | |
| NM_001374359.1:c.330C>T (GFM1) | NP_001361288.1:p.Ser110= | |
| NM_001374360.1:c.330C>T (GFM1) | NP_001361289.1:p.Ser110= | |
| NM_001374361.1:c.213C>T (GFM1) | NP_001361290.1:p.Ser71= | |
| NM_024996.7:c.897C>T (GFM1) MANE Select | NP_079272.4:p.Ser299= | |
| NR_164499.1:n.1005C>T (GFM1) | ||
| NR_164500.1:n.1005C>T (GFM1) | ||
| NR_164501.1:n.550C>T (GFM1) | ||
| NR_164502.1:n.884C>T (GFM1) | ||
| NM_001308164.2:c.954C>T (GFM1) | NP_001295093.1:p.Ser318= | |
| NM_001308166.2:c.897C>T (GFM1) | NP_001295095.1:p.Ser299= |