Linked Data
ClinVar Variation Id:
292963
dbSNP Id:
rs766829938
ExAC:
1:158596654 C / T
gnomAD v2:
1-158596654-C-T
gnomAD v3:
1-158626864-C-T
gnomAD v4:
1-158626864-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158626864C>T , CM000663.2:g.158626864C>T | GRCh38 |
| NC_000001.10:g.158596654C>T , CM000663.1:g.158596654C>T | GRCh37 |
| NC_000001.9:g.156863278C>T | NCBI36 |
| NG_011474.1:g.64853G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.5808G>A MANE Select | ENSP00000495214.1:p.Lys1936= | |
| ENST00000368147.8:c.5808G>A | ENSP00000357129.4:p.Lys1936= | |
| ENST00000461624.1:n.354G>A | ||
| ENST00000614909.4:c.5808G>A | ENSP00000482595.1:p.Lys1936= | |
| NM_003126.2:c.5808G>A | NP_003117.2:p.Lys1936= | |
| XM_011509916.1:c.5808G>A | XP_011508218.1:p.Lys1936= | |
| XM_011509917.1:c.5808G>A | XP_011508219.1:p.Lys1936= | |
| XM_011509918.1:c.5808G>A | XP_011508220.1:p.Lys1936= | |
| XR_921911.1:n.5679-642G>A | ||
| NM_003126.3:c.5808G>A | NP_003117.2:p.Lys1936= | |
| XM_011509916.2:c.5808G>A | XP_011508218.1:p.Lys1936= | |
| XM_011509917.3:c.5808G>A | XP_011508219.1:p.Lys1936= | |
| XM_011509918.3:c.5808G>A | XP_011508220.1:p.Lys1936= | |
| XR_921911.3:n.5692-642G>A | ||
| NM_003126.4:c.5808G>A MANE Select | NP_003117.2:p.Lys1936= |