Linked Data
ClinVar Variation Id:
2170322
ClinVar RCV Id:
RCV003095478
dbSNP Id:
rs747049484
ExAC:
1:45444131 T / C
gnomAD v2:
1-45444131-T-C
gnomAD v3:
1-44978459-T-C
gnomAD v4:
1-44978459-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44978459T>C , CM000663.2:g.44978459T>C | GRCh38 |
| NC_000001.10:g.45444131T>C , CM000663.1:g.45444131T>C | GRCh37 |
| NC_000001.9:g.45216718T>C | NCBI36 |
| NG_015864.1:g.13231A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360403.7:c.150A>G MANE Select | ENSP00000353575.2:p.Glu50= | |
| ENST00000360403.6:c.150A>G | ENSP00000353575.2:p.Glu50= | |
| ENST00000372182.6:n.263A>G | ||
| ENST00000372183.7:c.150A>G | ENSP00000361257.3:p.Glu50= | |
| ENST00000477953.5:n.253A>G | ||
| ENST00000480675.5:c.150A>G | ENSP00000485842.1:p.Glu50= | |
| ENST00000487532.5:n.262A>G | ||
| ENST00000497010.1:n.262A>G | ||
| ENST00000620860.4:c.150A>G | ENSP00000483996.1:p.Glu50= | |
| NM_001166588.2:c.150A>G | NP_001160060.1:p.Glu50= | |
| NM_001261418.1:c.150A>G | NP_001248347.1:p.Glu50= | |
| NM_020365.4:c.150A>G | NP_065098.1:p.Glu50= | |
| XM_011542396.1:c.150A>G | XP_011540698.1:p.Glu50= | |
| XM_017002745.2:c.150A>G | XP_016858234.1:p.Glu50= | |
| XM_017002746.1:c.-305A>G | XP_016858235.1:n.-305A>G | |
| XM_017002747.1:c.-305A>G | XP_016858236.1:n.-305A>G | |
| NM_020365.5:c.150A>G MANE Select | NP_065098.1:p.Glu50= | |
| NM_001166588.3:c.150A>G | NP_001160060.1:p.Glu50= | |
| NM_001261418.2:c.150A>G | NP_001248347.1:p.Glu50= |