Linked Data
ClinVar Variation Id:
292938
dbSNP Id:
rs747391167
ExAC:
1:158582750 T / C
gnomAD v2:
1-158582750-T-C
gnomAD v3:
1-158612960-T-C
gnomAD v4:
1-158612960-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612960T>C , CM000663.2:g.158612960T>C | GRCh38 |
| NC_000001.10:g.158582750T>C , CM000663.1:g.158582750T>C | GRCh37 |
| NC_000001.9:g.156849374T>C | NCBI36 |
| NG_011474.1:g.78757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.6991A>G MANE Select | ENSP00000495214.1:p.Lys2331Glu | |
| ENST00000368147.8:c.6991A>G | ENSP00000357129.4:p.Lys2331Glu | |
| ENST00000481212.5:n.432A>G | ||
| ENST00000498708.1:n.423A>G | ||
| ENST00000614909.4:c.6991A>G | ENSP00000482595.1:p.Lys2331Glu | |
| NM_003126.2:c.6991A>G | NP_003117.2:p.Lys2331Glu | |
| XM_011509916.1:c.6991A>G | XP_011508218.1:p.Lys2331Glu | |
| XM_011509917.1:c.6973A>G | XP_011508219.1:p.Lys2325Glu | |
| NM_003126.3:c.6991A>G | NP_003117.2:p.Lys2331Glu | |
| XM_011509916.2:c.6991A>G | XP_011508218.1:p.Lys2331Glu | |
| XM_011509917.3:c.6973A>G | XP_011508219.1:p.Lys2325Glu | |
| NM_003126.4:c.6991A>G MANE Select | NP_003117.2:p.Lys2331Glu |