Linked Data
ClinVar Variation Id:
1612135
ClinVar RCV Id:
RCV002168403
dbSNP Id:
rs1721845527
MyVariant Identifiers:
chr3:g.158364584T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158646795T>C , CM000665.2:g.158646795T>C | GRCh38 |
| NC_000003.11:g.158364584T>C , CM000665.1:g.158364584T>C | GRCh37 |
| NC_000003.10:g.159847278T>C | NCBI36 |
| NG_008441.1:g.7268T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.420T>C (GFM1) MANE Select | ENSP00000419038.1:p.Gly140= | |
| ENST00000264263.9:c.420T>C (GFM1) | ENSP00000264263.5:p.Gly140= | |
| ENST00000478254.5:c.420T>C (GFM1) | ENSP00000417225.1:p.Gly140= | |
| ENST00000478576.5:c.420T>C (GFM1) | ENSP00000418755.1:p.Gly140= | |
| ENST00000482640.5:c.362-586A>G (LXN) | ||
| ENST00000486715.5:c.420T>C (GFM1) | ENSP00000419038.1:p.Gly140= | |
| NM_001308164.1:c.420T>C (GFM1) | NP_001295093.1:p.Gly140= | |
| NM_001308166.1:c.420T>C (GFM1) | NP_001295095.1:p.Gly140= | |
| NM_024996.5:c.420T>C (GFM1) | NP_079272.4:p.Gly140= | |
| XM_006713795.1:c.420T>C (GFM1) | XP_006713858.1:p.Gly140= | |
| XM_006713795.2:c.420T>C (GFM1) | XP_006713858.1:p.Gly140= | |
| NM_001374355.1:c.420T>C (GFM1) | NP_001361284.1:p.Gly140= | |
| NM_001374356.1:c.420T>C (GFM1) | NP_001361285.1:p.Gly140= | |
| NM_001374357.1:c.195T>C (GFM1) | NP_001361286.1:p.Gly65= | |
| NM_001374358.1:c.234+1014T>C (GFM1) | NP_001361287.1:n.234+1014T>C | |
| NM_001374359.1:c.5+1014T>C (GFM1) | NP_001361288.1:n.5+1014T>C | |
| NM_001374360.1:c.5+1014T>C (GFM1) | NP_001361289.1:n.5+1014T>C | |
| NM_001374361.1:c.5+1014T>C (GFM1) | NP_001361290.1:n.5+1014T>C | |
| NM_024996.7:c.420T>C (GFM1) MANE Select | NP_079272.4:p.Gly140= | |
| NR_164499.1:n.528T>C (GFM1) | ||
| NR_164500.1:n.528T>C (GFM1) | ||
| NR_164501.1:n.342+1014T>C (GFM1) | ||
| NR_164502.1:n.528T>C (GFM1) | ||
| NM_001308164.2:c.420T>C (GFM1) | NP_001295093.1:p.Gly140= | |
| NM_001308166.2:c.420T>C (GFM1) | NP_001295095.1:p.Gly140= |