Linked Data
ClinVar Variation Id:
402387
ClinVar RCV Id:
RCV000455360
dbSNP Id:
rs117663392
ExAC:
9:33385771 C / T
gnomAD v2:
9-33385771-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33385773C>T , CM000671.2:g.33385773C>T | GRCh38 |
| NC_000009.11:g.33385771C>T , CM000671.1:g.33385771C>T | GRCh37 |
| NC_000009.10:g.33375771C>T | NCBI36 |
| NG_027764.1:g.21747G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297988.6:c.619G>A MANE Select | ENSP00000297988.1:p.Gly207Ser | |
| ENST00000297988.5:c.619G>A | ENSP00000297988.1:p.Gly207Ser | |
| ENST00000377425.8:c.448G>A | ENSP00000396111.2:p.Gly150Ser | |
| ENST00000379503.7:n.469G>A | ||
| ENST00000379506.7:c.616G>A | ENSP00000368820.3:p.Gly206Ser | |
| ENST00000379507.7:c.616G>A | ENSP00000368821.3:p.Gly206Ser | |
| ENST00000439678.5:c.343G>A | ENSP00000410138.1:p.Gly115Ser | |
| ENST00000447660.3:c.343G>A | ENSP00000412868.2:p.Gly115Ser | |
| ENST00000537089.5:c.*339G>A | ENSP00000441619.2:n.*339G>A | |
| ENST00000623097.3:n.327G>A | ||
| ENST00000624005.3:c.*220G>A | ENSP00000485224.1:n.*220G>A | |
| ENST00000624075.3:c.619G>A | ENSP00000485332.1:p.Gly207Ser | |
| ENST00000624095.1:c.*388G>A | ENSP00000485419.1:n.*388G>A | |
| ENST00000624420.3:c.*388G>A | ENSP00000485348.1:n.*388G>A | |
| ENST00000624890.3:c.*811G>A | ENSP00000485131.1:n.*811G>A | |
| ENST00000625109.3:c.238G>A | ENSP00000485081.1:p.Gly80Ser | |
| NM_001170.1:c.619G>A | NP_001161.1:p.Gly207Ser | |
| XM_005251453.2:c.619G>A | XP_005251510.1:p.Gly207Ser | |
| XM_006716765.2:c.448G>A | XP_006716828.1:p.Gly150Ser | |
| XM_011517865.1:c.622G>A | XP_011516167.1:p.Gly208Ser | |
| XM_011517866.1:c.619G>A | XP_011516168.1:p.Gly207Ser | |
| XM_011517867.1:c.448G>A | XP_011516169.1:p.Gly150Ser | |
| XM_011517868.1:c.622G>A | XP_011516170.1:p.Gly208Ser | |
| XM_011517869.1:c.448G>A | XP_011516171.1:p.Gly150Ser | |
| NM_001170.2:c.619G>A | NP_001161.1:p.Gly207Ser | |
| NM_001318156.1:c.448G>A | NP_001305085.1:p.Gly150Ser | |
| NM_001318157.1:c.616G>A | NP_001305086.1:p.Gly206Ser | |
| NM_001318158.1:c.619G>A | NP_001305087.1:p.Gly207Ser | |
| NR_134513.1:n.711G>A | ||
| NR_134514.1:n.830G>A | ||
| NR_134515.1:n.981G>A | ||
| XM_005251453.3:c.619G>A | XP_005251510.1:p.Gly207Ser | |
| XM_006716765.3:c.448G>A | XP_006716828.1:p.Gly150Ser | |
| XM_011517866.3:c.619G>A | XP_011516168.1:p.Gly207Ser | |
| XM_011517867.2:c.448G>A | XP_011516169.1:p.Gly150Ser | |
| XM_017014700.1:c.616G>A | XP_016870189.1:p.Gly206Ser | |
| XM_017014701.1:c.343G>A | XP_016870190.1:p.Gly115Ser | |
| XM_017014702.2:c.343G>A | XP_016870191.1:p.Gly115Ser | |
| XM_017014704.1:c.343G>A | XP_016870193.1:p.Gly115Ser | |
| XM_017014705.2:c.343G>A | XP_016870194.1:p.Gly115Ser | |
| XM_017014706.2:c.448G>A | XP_016870195.1:p.Gly150Ser | |
| XM_024447535.1:c.619G>A | XP_024303303.1:p.Gly207Ser | |
| XM_024447536.1:c.619G>A | XP_024303304.1:p.Gly207Ser | |
| XM_024447537.1:c.343G>A | XP_024303305.1:p.Gly115Ser | |
| XM_024447538.1:c.343G>A | XP_024303306.1:p.Gly115Ser | |
| XM_024447539.1:c.343G>A | XP_024303307.1:p.Gly115Ser | |
| NM_001170.3:c.619G>A MANE Select | NP_001161.1:p.Gly207Ser | |
| NM_001376191.1:c.619G>A | NP_001363120.1:p.Gly207Ser | |
| NM_001376192.1:c.619G>A | NP_001363121.1:p.Gly207Ser | |
| NM_001376193.1:c.619G>A | NP_001363122.1:p.Gly207Ser | |
| NR_164778.1:n.853G>A | ||
| NR_164779.1:n.598G>A | ||
| NM_001318156.2:c.448G>A | NP_001305085.1:p.Gly150Ser | |
| NM_001318157.2:c.616G>A | NP_001305086.1:p.Gly206Ser | |
| NM_001318158.2:c.619G>A | NP_001305087.1:p.Gly207Ser | |
| NR_134513.2:n.597G>A | ||
| NR_134514.2:n.716G>A | ||
| NR_134515.2:n.867G>A |