Linked Data
ClinVar Variation Id:
343928
dbSNP Id:
rs531887279
ExAC:
3:158371245 C / A
gnomAD v2:
3-158371245-C-A
gnomAD v3:
3-158653456-C-A
gnomAD v4:
3-158653456-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158653456C>A , CM000665.2:g.158653456C>A | GRCh38 |
| NC_000003.11:g.158371245C>A , CM000665.1:g.158371245C>A | GRCh37 |
| NC_000003.10:g.159853939C>A | NCBI36 |
| NG_008441.1:g.13929C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.987C>A (GFM1) MANE Select | ENSP00000419038.1:p.Leu329= | |
| ENST00000264263.9:c.1044C>A (GFM1) | ENSP00000264263.5:p.Leu348= | |
| ENST00000312756.4:n.196C>A (GFM1) | ||
| ENST00000478254.5:c.987C>A (GFM1) | ENSP00000417225.1:p.Leu329= | |
| ENST00000478576.5:c.987C>A (GFM1) | ENSP00000418755.1:p.Leu329= | |
| ENST00000482640.5:c.362-7247G>T (LXN) | ||
| ENST00000486715.5:c.987C>A (GFM1) | ENSP00000419038.1:p.Leu329= | |
| NM_001308164.1:c.1044C>A (GFM1) | NP_001295093.1:p.Leu348= | |
| NM_001308166.1:c.987C>A (GFM1) | NP_001295095.1:p.Leu329= | |
| NM_024996.5:c.987C>A (GFM1) | NP_079272.4:p.Leu329= | |
| XM_006713795.1:c.870C>A (GFM1) | XP_006713858.1:p.Leu290= | |
| XM_006713795.2:c.870C>A (GFM1) | XP_006713858.1:p.Leu290= | |
| NM_001374355.1:c.1044C>A (GFM1) | NP_001361284.1:p.Leu348= | |
| NM_001374356.1:c.870C>A (GFM1) | NP_001361285.1:p.Leu290= | |
| NM_001374357.1:c.762C>A (GFM1) | NP_001361286.1:p.Leu254= | |
| NM_001374358.1:c.528C>A (GFM1) | NP_001361287.1:p.Leu176= | |
| NM_001374359.1:c.420C>A (GFM1) | NP_001361288.1:p.Leu140= | |
| NM_001374360.1:c.420C>A (GFM1) | NP_001361289.1:p.Leu140= | |
| NM_001374361.1:c.303C>A (GFM1) | NP_001361290.1:p.Leu101= | |
| NM_024996.7:c.987C>A (GFM1) MANE Select | NP_079272.4:p.Leu329= | |
| NR_164499.1:n.1095C>A (GFM1) | ||
| NR_164500.1:n.1095C>A (GFM1) | ||
| NR_164501.1:n.640C>A (GFM1) | ||
| NR_164502.1:n.974C>A (GFM1) | ||
| NM_001308164.2:c.1044C>A (GFM1) | NP_001295093.1:p.Leu348= | |
| NM_001308166.2:c.987C>A (GFM1) | NP_001295095.1:p.Leu329= |