Linked Data
ClinVar Variation Id:
4162
ClinVar RCV Id:
RCV000004379
dbSNP Id:
rs119470020
PubMed:
PMID:17160893
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.158665443T>G , CM000665.2:g.158665443T>G | GRCh38 |
| NC_000003.11:g.158383232T>G , CM000665.1:g.158383232T>G | GRCh37 |
| NC_000003.10:g.159865926T>G | NCBI36 |
| NG_008441.1:g.25916T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000486715.6:c.1487T>G (GFM1) MANE Select | ENSP00000419038.1:p.Met496Arg | |
| ENST00000264263.9:c.1544T>G (GFM1) | ENSP00000264263.5:p.Met515Arg | |
| ENST00000478254.5:c.*127T>G (GFM1) | ENSP00000417225.1:n.*127T>G | |
| ENST00000478576.5:c.1487T>G (GFM1) | ENSP00000418755.1:p.Met496Arg | |
| ENST00000482640.5:c.361+1569A>C (LXN) | ||
| ENST00000486715.5:c.1487T>G (GFM1) | ENSP00000419038.1:p.Met496Arg | |
| NM_001308164.1:c.1544T>G (GFM1) | NP_001295093.1:p.Met515Arg | |
| NM_001308166.1:c.1487T>G (GFM1) | NP_001295095.1:p.Met496Arg | |
| NM_024996.5:c.1487T>G (GFM1) | NP_079272.4:p.Met496Arg | |
| XM_006713795.1:c.1370T>G (GFM1) | XP_006713858.1:p.Met457Arg | |
| XM_006713795.2:c.1370T>G (GFM1) | XP_006713858.1:p.Met457Arg | |
| NM_001374355.1:c.1406T>G (GFM1) | NP_001361284.1:p.Met469Arg | |
| NM_001374356.1:c.1370T>G (GFM1) | NP_001361285.1:p.Met457Arg | |
| NM_001374357.1:c.1262T>G (GFM1) | NP_001361286.1:p.Met421Arg | |
| NM_001374358.1:c.1028T>G (GFM1) | NP_001361287.1:p.Met343Arg | |
| NM_001374359.1:c.920T>G (GFM1) | NP_001361288.1:p.Met307Arg | |
| NM_001374360.1:c.920T>G (GFM1) | NP_001361289.1:p.Met307Arg | |
| NM_001374361.1:c.803T>G (GFM1) | NP_001361290.1:p.Met268Arg | |
| NM_024996.7:c.1487T>G (GFM1) MANE Select | NP_079272.4:p.Met496Arg | |
| NR_164499.1:n.1510T>G (GFM1) | ||
| NR_164500.1:n.1595T>G (GFM1) | ||
| NR_164501.1:n.1140T>G (GFM1) | ||
| NR_164502.1:n.1474T>G (GFM1) | ||
| NM_001308164.2:c.1544T>G (GFM1) | NP_001295093.1:p.Met515Arg | |
| NM_001308166.2:c.1487T>G (GFM1) | NP_001295095.1:p.Met496Arg |