Linked Data
ClinVar Variation Id:
354350
dbSNP Id:
rs753947379
ExAC:
5:7878078 G / A
gnomAD v2:
5-7878078-G-A
gnomAD v3:
5-7877965-G-A
gnomAD v4:
5-7877965-G-A
COSMIC:
COSM450096
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7877965G>A , CM000667.2:g.7877965G>A | GRCh38 |
| NC_000005.9:g.7878078G>A , CM000667.1:g.7878078G>A | GRCh37 |
| NC_000005.8:g.7931078G>A | NCBI36 |
| NG_008856.1:g.13862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.423G>A MANE Select | ENSP00000402510.2:p.Pro141= | |
| ENST00000264668.6:c.504G>A | ENSP00000264668.2:p.Pro168= | |
| ENST00000440940.6:c.423G>A | ENSP00000402510.2:p.Pro141= | |
| ENST00000502509.5:n.638G>A | ||
| ENST00000502550.5:c.423G>A | ENSP00000424599.1:p.Pro141= | |
| ENST00000503550.5:c.*358G>A | ENSP00000424644.1:n.*358G>A | |
| ENST00000508047.5:c.476G>A | ||
| ENST00000508890.1:n.236G>A | ||
| ENST00000510279.5:c.*92G>A | ENSP00000427200.1:n.*92G>A | |
| ENST00000510525.5:c.448G>A | ||
| ENST00000511461.5:c.336G>A | ||
| ENST00000513439.5:c.*130G>A | ENSP00000426710.1:n.*130G>A | |
| ENST00000514220.5:c.208G>A | ||
| ENST00000514369.5:c.*87G>A | ENSP00000426132.1:n.*87G>A | |
| NM_002454.2:c.423G>A | NP_002445.2:p.Pro141= | |
| NM_024010.2:c.504G>A | NP_076915.2:p.Pro168= | |
| XM_006714474.2:c.504G>A | XP_006714537.1:p.Pro168= | |
| XM_011514043.1:c.504G>A | XP_011512345.1:p.Pro168= | |
| XM_011514044.1:c.423G>A | XP_011512346.1:p.Pro141= | |
| XM_011514045.1:c.504G>A | XP_011512347.1:p.Pro168= | |
| XR_241702.1:n.526G>A | ||
| XR_241703.1:n.519G>A | ||
| XR_925614.1:n.526G>A | ||
| XR_925615.1:n.526G>A | ||
| NM_001364440.1:c.423G>A | NP_001351369.1:p.Pro141= | |
| NM_001364441.1:c.423G>A | NP_001351370.1:p.Pro141= | |
| NM_001364442.1:c.423G>A | NP_001351371.1:p.Pro141= | |
| NM_024010.3:c.423G>A | NP_076915.3:p.Pro141= | |
| NR_134480.1:n.546G>A | ||
| NR_134481.1:n.560G>A | ||
| NR_134482.1:n.406G>A | ||
| NR_157168.1:n.476G>A | ||
| NR_157169.1:n.336G>A | ||
| NR_157170.1:n.362G>A | ||
| NR_157171.1:n.336G>A | ||
| NR_157172.1:n.362G>A | ||
| NR_157173.1:n.490G>A | ||
| NR_157174.1:n.362G>A | ||
| NR_157175.1:n.516G>A | ||
| NR_157176.1:n.516G>A | ||
| NR_157177.1:n.511G>A | ||
| NR_157178.1:n.516G>A | ||
| XM_024446063.1:c.468G>A | XP_024301831.1:p.Pro156= | |
| XM_024446064.1:c.423G>A | XP_024301832.1:p.Pro141= | |
| XR_001742071.1:n.526G>A | ||
| XR_001742072.1:n.526G>A | ||
| XR_001742074.1:n.526G>A | ||
| XR_001742075.1:n.526G>A | ||
| XR_001742076.1:n.526G>A | ||
| XR_001742077.1:n.526G>A | ||
| NM_001364440.2:c.423G>A | NP_001351369.1:p.Pro141= | |
| NM_001364441.2:c.423G>A | NP_001351370.1:p.Pro141= | |
| NM_001364442.2:c.423G>A | NP_001351371.1:p.Pro141= | |
| NM_002454.3:c.423G>A MANE Select | NP_002445.2:p.Pro141= | |
| NM_024010.4:c.423G>A | NP_076915.3:p.Pro141= | |
| NR_134480.2:n.502G>A | ||
| NR_134481.2:n.516G>A | ||
| NR_134482.2:n.362G>A | ||
| NR_157168.2:n.476G>A | ||
| NR_157169.2:n.336G>A | ||
| NR_157170.2:n.362G>A | ||
| NR_157171.2:n.336G>A | ||
| NR_157172.2:n.362G>A | ||
| NR_157173.2:n.490G>A | ||
| NR_157174.2:n.362G>A | ||
| NR_157175.2:n.516G>A | ||
| NR_157176.2:n.516G>A | ||
| NR_157177.2:n.511G>A | ||
| NR_157178.2:n.516G>A |