Linked Data
ClinVar Variation Id:
4160
dbSNP Id:
rs119470018
ExAC:
3:158364685 A / G
gnomAD v2:
3-158364685-A-G
gnomAD v4:
3-158646896-A-G
PubMed:
PMID:15537906
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158646896A>G , CM000665.2:g.158646896A>G | GRCh38 |
| NC_000003.11:g.158364685A>G , CM000665.1:g.158364685A>G | GRCh37 |
| NC_000003.10:g.159847379A>G | NCBI36 |
| NG_008441.1:g.7369A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.521A>G (GFM1) MANE Select | ENSP00000419038.1:p.Asn174Ser | |
| ENST00000264263.9:c.521A>G (GFM1) | ENSP00000264263.5:p.Asn174Ser | |
| ENST00000478251.1:n.9A>G (GFM1) | ||
| ENST00000478254.5:c.521A>G (GFM1) | ENSP00000417225.1:p.Asn174Ser | |
| ENST00000478576.5:c.521A>G (GFM1) | ENSP00000418755.1:p.Asn174Ser | |
| ENST00000482640.5:c.362-687T>C (LXN) | ||
| ENST00000486715.5:c.521A>G (GFM1) | ENSP00000419038.1:p.Asn174Ser | |
| NM_001308164.1:c.521A>G (GFM1) | NP_001295093.1:p.Asn174Ser | |
| NM_001308166.1:c.521A>G (GFM1) | NP_001295095.1:p.Asn174Ser | |
| NM_024996.5:c.521A>G (GFM1) | NP_079272.4:p.Asn174Ser | |
| XM_006713795.1:c.521A>G (GFM1) | XP_006713858.1:p.Asn174Ser | |
| XM_006713795.2:c.521A>G (GFM1) | XP_006713858.1:p.Asn174Ser | |
| NM_001374355.1:c.521A>G (GFM1) | NP_001361284.1:p.Asn174Ser | |
| NM_001374356.1:c.521A>G (GFM1) | NP_001361285.1:p.Asn174Ser | |
| NM_001374357.1:c.296A>G (GFM1) | NP_001361286.1:p.Asn99Ser | |
| NM_001374358.1:c.234+1115A>G (GFM1) | NP_001361287.1:n.234+1115A>G | |
| NM_001374359.1:c.5+1115A>G (GFM1) | NP_001361288.1:n.5+1115A>G | |
| NM_001374360.1:c.5+1115A>G (GFM1) | NP_001361289.1:n.5+1115A>G | |
| NM_001374361.1:c.5+1115A>G (GFM1) | NP_001361290.1:n.5+1115A>G | |
| NM_024996.7:c.521A>G (GFM1) MANE Select | NP_079272.4:p.Asn174Ser | |
| NR_164499.1:n.629A>G (GFM1) | ||
| NR_164500.1:n.629A>G (GFM1) | ||
| NR_164501.1:n.342+1115A>G (GFM1) | ||
| NR_164502.1:n.629A>G (GFM1) | ||
| NM_001308164.2:c.521A>G (GFM1) | NP_001295093.1:p.Asn174Ser | |
| NM_001308166.2:c.521A>G (GFM1) | NP_001295095.1:p.Asn174Ser |