Linked Data
ClinVar Variation Id:
2895690
ClinVar RCV Id:
RCV003728523
dbSNP Id:
rs1278260482
gnomAD v2:
3-158364518-T-C
gnomAD v4:
3-158646729-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158646729T>C , CM000665.2:g.158646729T>C | GRCh38 |
| NC_000003.11:g.158364518T>C , CM000665.1:g.158364518T>C | GRCh37 |
| NC_000003.10:g.159847212T>C | NCBI36 |
| NG_008441.1:g.7202T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.368-14T>C (GFM1) MANE Select | ENSP00000419038.1:n.368-14T>C | |
| ENST00000264263.9:c.368-14T>C (GFM1) | ENSP00000264263.5:n.368-14T>C | |
| ENST00000464732.1:c.143-14T>C (GFM1) | ENSP00000417532.1:n.143-14T>C | |
| ENST00000478254.5:c.368-14T>C (GFM1) | ENSP00000417225.1:n.368-14T>C | |
| ENST00000478576.5:c.368-14T>C (GFM1) | ENSP00000418755.1:n.368-14T>C | |
| ENST00000482640.5:c.362-520A>G (LXN) | ||
| ENST00000486715.5:c.368-14T>C (GFM1) | ENSP00000419038.1:n.368-14T>C | |
| NM_001308164.1:c.368-14T>C (GFM1) | NP_001295093.1:n.368-14T>C | |
| NM_001308166.1:c.368-14T>C (GFM1) | NP_001295095.1:n.368-14T>C | |
| NM_024996.5:c.368-14T>C (GFM1) | NP_079272.4:n.368-14T>C | |
| XM_006713795.1:c.368-14T>C (GFM1) | XP_006713858.1:n.368-14T>C | |
| XM_006713795.2:c.368-14T>C (GFM1) | XP_006713858.1:n.368-14T>C | |
| NM_001374355.1:c.368-14T>C (GFM1) | NP_001361284.1:n.368-14T>C | |
| NM_001374356.1:c.368-14T>C (GFM1) | NP_001361285.1:n.368-14T>C | |
| NM_001374357.1:c.143-14T>C (GFM1) | NP_001361286.1:n.143-14T>C | |
| NM_001374358.1:c.234+948T>C (GFM1) | NP_001361287.1:n.234+948T>C | |
| NM_001374359.1:c.5+948T>C (GFM1) | NP_001361288.1:n.5+948T>C | |
| NM_001374360.1:c.5+948T>C (GFM1) | NP_001361289.1:n.5+948T>C | |
| NM_001374361.1:c.5+948T>C (GFM1) | NP_001361290.1:n.5+948T>C | |
| NM_024996.7:c.368-14T>C (GFM1) MANE Select | NP_079272.4:n.368-14T>C | |
| NR_164499.1:n.476-14T>C (GFM1) | ||
| NR_164500.1:n.476-14T>C (GFM1) | ||
| NR_164501.1:n.342+948T>C (GFM1) | ||
| NR_164502.1:n.476-14T>C (GFM1) | ||
| NM_001308164.2:c.368-14T>C (GFM1) | NP_001295093.1:n.368-14T>C | |
| NM_001308166.2:c.368-14T>C (GFM1) | NP_001295095.1:n.368-14T>C |