Linked Data
ClinVar Variation Id:
214495
dbSNP Id:
rs863224032
gnomAD v2:
3-158369895-C-T
gnomAD v3:
3-158652106-C-T
gnomAD v4:
3-158652106-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158652106C>T , CM000665.2:g.158652106C>T | GRCh38 |
| NC_000003.11:g.158369895C>T , CM000665.1:g.158369895C>T | GRCh37 |
| NC_000003.10:g.159852589C>T | NCBI36 |
| NG_008441.1:g.12579C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.700C>T (GFM1) MANE Select | ENSP00000419038.1:p.Arg234Ter | |
| ENST00000264263.9:c.757C>T (GFM1) | ENSP00000264263.5:p.Arg253Ter | |
| ENST00000478254.5:c.700C>T (GFM1) | ENSP00000417225.1:p.Arg234Ter | |
| ENST00000478576.5:c.700C>T (GFM1) | ENSP00000418755.1:p.Arg234Ter | |
| ENST00000482640.5:c.362-5897G>A (LXN) | ||
| ENST00000486715.5:c.700C>T (GFM1) | ENSP00000419038.1:p.Arg234Ter | |
| NM_001308164.1:c.757C>T (GFM1) | NP_001295093.1:p.Arg253Ter | |
| NM_001308166.1:c.700C>T (GFM1) | NP_001295095.1:p.Arg234Ter | |
| NM_024996.5:c.700C>T (GFM1) | NP_079272.4:p.Arg234Ter | |
| XM_006713795.1:c.583C>T (GFM1) | XP_006713858.1:p.Arg195Ter | |
| XM_006713795.2:c.583C>T (GFM1) | XP_006713858.1:p.Arg195Ter | |
| NM_001374355.1:c.757C>T (GFM1) | NP_001361284.1:p.Arg253Ter | |
| NM_001374356.1:c.583C>T (GFM1) | NP_001361285.1:p.Arg195Ter | |
| NM_001374357.1:c.475C>T (GFM1) | NP_001361286.1:p.Arg159Ter | |
| NM_001374358.1:c.241C>T (GFM1) | NP_001361287.1:p.Arg81Ter | |
| NM_001374359.1:c.133C>T (GFM1) | NP_001361288.1:p.Arg45Ter | |
| NM_001374360.1:c.133C>T (GFM1) | NP_001361289.1:p.Arg45Ter | |
| NM_001374361.1:c.16C>T (GFM1) | NP_001361290.1:p.Arg6Ter | |
| NM_024996.7:c.700C>T (GFM1) MANE Select | NP_079272.4:p.Arg234Ter | |
| NR_164499.1:n.808C>T (GFM1) | ||
| NR_164500.1:n.808C>T (GFM1) | ||
| NR_164501.1:n.353C>T (GFM1) | ||
| NR_164502.1:n.691C>T (GFM1) | ||
| NM_001308164.2:c.757C>T (GFM1) | NP_001295093.1:p.Arg253Ter | |
| NM_001308166.2:c.700C>T (GFM1) | NP_001295095.1:p.Arg234Ter |