Linked Data
ClinVar Variation Id:
293045
dbSNP Id:
rs150007668
ExAC:
1:158647584 G / T
gnomAD v2:
1-158647584-G-T
gnomAD v3:
1-158677794-G-T
gnomAD v4:
1-158677794-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158677794G>T , CM000663.2:g.158677794G>T | GRCh38 |
| NC_000001.10:g.158647584G>T , CM000663.1:g.158647584G>T | GRCh37 |
| NC_000001.9:g.156914208G>T | NCBI36 |
| NG_011474.1:g.13923C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.853C>A MANE Select | ENSP00000495214.1:p.Pro285Thr | |
| ENST00000368147.8:c.853C>A | ENSP00000357129.4:p.Pro285Thr | |
| ENST00000467387.1:c.307C>A | ENSP00000476485.1:p.Pro103Thr | |
| ENST00000614909.4:c.853C>A | ENSP00000482595.1:p.Pro285Thr | |
| NM_003126.2:c.853C>A | NP_003117.2:p.Pro285Thr | |
| XM_011509916.1:c.853C>A | XP_011508218.1:p.Pro285Thr | |
| XM_011509917.1:c.853C>A | XP_011508219.1:p.Pro285Thr | |
| XM_011509918.1:c.853C>A | XP_011508220.1:p.Pro285Thr | |
| XM_011509919.1:c.853C>A | XP_011508221.1:p.Pro285Thr | |
| XR_921911.1:n.966C>A | ||
| XR_921912.1:n.971C>A | ||
| NM_003126.3:c.853C>A | NP_003117.2:p.Pro285Thr | |
| XM_011509916.2:c.853C>A | XP_011508218.1:p.Pro285Thr | |
| XM_011509917.3:c.853C>A | XP_011508219.1:p.Pro285Thr | |
| XM_011509918.3:c.853C>A | XP_011508220.1:p.Pro285Thr | |
| XM_011509919.3:c.853C>A | XP_011508221.1:p.Pro285Thr | |
| XR_921911.3:n.979C>A | ||
| XR_921912.2:n.981C>A | ||
| NM_003126.4:c.853C>A MANE Select | NP_003117.2:p.Pro285Thr |