Linked Data
dbSNP Id:
rs753419415
ExAC:
1:201286817 A / G
gnomAD v2:
1-201286817-A-G
gnomAD v3:
1-201317689-A-G
gnomAD v4:
1-201317689-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201317689A>G , CM000663.2:g.201317689A>G | GRCh38 |
| NC_000001.10:g.201286817A>G , CM000663.1:g.201286817A>G | GRCh37 |
| NC_000001.9:g.199553440A>G | NCBI36 |
| NG_023337.1:g.39238A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367324.8:c.964A>G MANE Select | ENSP00000356293.4:p.Lys322Glu | |
| ENST00000263946.7:c.964A>G | ENSP00000263946.3:p.Lys322Glu | |
| ENST00000352845.3:c.964A>G | ENSP00000295597.3:p.Lys322Glu | |
| ENST00000367324.7:c.964A>G | ENSP00000356293.3:p.Lys322Glu | |
| ENST00000475988.1:n.306A>G | ||
| ENST00000622031.4:c.961A>G | ENSP00000482213.1:p.Lys321Glu | |
| NM_000299.3:c.964A>G | NP_000290.2:p.Lys322Glu | |
| NM_001005337.2:c.964A>G | NP_001005337.1:p.Lys322Glu | |
| NM_001005337.3:c.964A>G MANE Select | NP_001005337.1:p.Lys322Glu | |
| NM_000299.4:c.964A>G | NP_000290.2:p.Lys322Glu |