Linked Data
ClinVar Variation Id:
510890
dbSNP Id:
rs764291332
ExAC:
1:197060145 T / C
gnomAD v2:
1-197060145-T-C
gnomAD v3:
1-197091015-T-C
gnomAD v4:
1-197091015-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091015T>C , CM000663.2:g.197091015T>C | GRCh38 |
| NC_000001.10:g.197060145T>C , CM000663.1:g.197060145T>C | GRCh37 |
| NC_000001.9:g.195326768T>C | NCBI36 |
| NG_015867.1:g.60680A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2758A>G | ||
| ENST00000367409.9:c.9471A>G MANE Select | ENSP00000356379.4:p.Glu3157= | |
| ENST00000680265.1:c.9693A>G | ENSP00000505384.1:p.Glu3231= | |
| ENST00000680710.1:c.9447A>G | ENSP00000506676.1:p.Glu3149= | |
| ENST00000294732.11:c.4716A>G | ENSP00000294732.7:p.Glu1572= | |
| ENST00000367408.5:c.2466A>G | ENSP00000356378.1:p.Glu822= | |
| ENST00000367409.8:c.9471A>G | ENSP00000356379.4:p.Glu3157= | |
| ENST00000612785.1:c.3429A>G | ENSP00000479244.1:p.Glu1143= | |
| NM_001206846.1:c.4716A>G | NP_001193775.1:p.Glu1572= | |
| NM_018136.4:c.9471A>G | NP_060606.3:p.Glu3157= | |
| NM_018136.5:c.9471A>G MANE Select | NP_060606.3:p.Glu3157= | |
| NM_001206846.2:c.4716A>G | NP_001193775.1:p.Glu1572= |