Linked Data
ClinVar Variation Id:
6605
dbSNP Id:
rs121434415
gnomAD v3:
19-7556507-A-G
gnomAD v4:
19-7556507-A-G
PubMed:
PMID:18313024
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7556507A>G , CM000681.2:g.7556507A>G | GRCh38 |
| NC_000019.9:g.7621393A>G , CM000681.1:g.7621393A>G | GRCh37 |
| NC_000019.8:g.7527393A>G | NCBI36 |
| NG_013374.1:g.27356A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000600737.6:c.3148A>G MANE Select | ENSP00000473211.1:p.Met1050Val | |
| ENST00000646984.1:c.319A>G | ENSP00000496219.1:p.Met107Val | |
| ENST00000221249.10:c.3034A>G | ENSP00000221249.5:p.Met1012Val | |
| ENST00000414982.7:c.3178A>G | ENSP00000407509.2:p.Met1060Val | |
| ENST00000450331.7:c.3034A>G | ENSP00000394348.2:p.Met1012Val | |
| ENST00000545201.6:c.2953A>G | ENSP00000443323.1:p.Met985Val | |
| ENST00000600737.5:c.3148A>G | ENSP00000473211.1:p.Met1050Val | |
| NM_001166111.1:c.3178A>G | NP_001159583.1:p.Met1060Val | |
| NM_001166112.1:c.2953A>G | NP_001159584.1:p.Met985Val | |
| NM_001166113.1:c.3034A>G | NP_001159585.1:p.Met1012Val | |
| NM_001166114.1:c.3148A>G | NP_001159586.1:p.Met1050Val | |
| NM_006702.4:c.3034A>G | NP_006693.3:p.Met1012Val | |
| NM_001166111.2:c.3178A>G | NP_001159583.1:p.Met1060Val | |
| NM_001166114.2:c.3148A>G MANE Select | NP_001159586.1:p.Met1050Val | |
| NM_006702.5:c.3034A>G | NP_006693.3:p.Met1012Val | |
| NM_001166112.2:c.2953A>G | NP_001159584.1:p.Met985Val |