Linked Data
ClinVar Variation Id:
237714
dbSNP Id:
rs200398750
ExAC:
9:135772578 C / T
gnomAD v2:
9-135772578-C-T
gnomAD v3:
9-132897191-C-T
gnomAD v4:
9-132897191-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132897191C>T , CM000671.2:g.132897191C>T | GRCh38 |
| NC_000009.11:g.135772578C>T , CM000671.1:g.135772578C>T | GRCh37 |
| NC_000009.10:g.134762399C>T | NCBI36 |
| NG_012386.1:g.52443G>A , LRG_486:g.52443G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2965G>A | ENSP00000496126.2:p.Glu989Lys | |
| ENST00000490179.4:c.2968G>A | ENSP00000495533.2:p.Glu990Lys | |
| ENST00000642261.2:c.*824G>A | ENSP00000494743.2:n.*824G>A | |
| ENST00000643275.2:c.*908G>A | ENSP00000495598.2:n.*908G>A | |
| ENST00000643362.2:c.2581G>A | ENSP00000496398.2:p.Glu861Lys | |
| ENST00000643625.2:c.*710G>A | ENSP00000495546.2:n.*710G>A | |
| ENST00000643691.2:c.2605G>A | ENSP00000494916.2:p.Glu869Lys | |
| ENST00000644184.2:c.2926G>A | ENSP00000495428.2:p.Glu976Lys | |
| ENST00000645129.2:c.2812G>A | ENSP00000493639.2:p.Glu938Lys | |
| ENST00000646440.2:c.2968G>A | ENSP00000495830.2:p.Glu990Lys | |
| ENST00000298552.9:c.2968G>A MANE Select | ENSP00000298552.3:p.Glu990Lys | |
| ENST00000642261.1:c.1105G>A | ||
| ENST00000642617.1:c.2965G>A | ENSP00000493773.1:p.Glu989Lys | |
| ENST00000642627.1:c.2950G>A | ENSP00000496772.1:p.Glu984Lys | |
| ENST00000642811.1:c.*2738G>A | ENSP00000495554.1:n.*2738G>A | |
| ENST00000643072.1:c.2815G>A | ENSP00000496691.1:p.Glu939Lys | |
| ENST00000643275.1:c.1442G>A | ENSP00000495598.1:n.1442G>A | |
| ENST00000643583.1:c.2953G>A | ENSP00000494685.1:p.Glu985Lys | |
| ENST00000643625.1:c.845G>A | ENSP00000495546.1:n.845G>A | |
| ENST00000643875.1:c.2968G>A | ENSP00000495158.1:p.Glu990Lys | |
| ENST00000644097.1:c.2965G>A | ENSP00000494682.1:p.Glu989Lys | |
| ENST00000644184.1:c.1663G>A | ENSP00000495428.1:p.Glu555Lys | |
| ENST00000644255.1:c.*2735G>A | ENSP00000493608.1:n.*2735G>A | |
| ENST00000644319.1:n.3343G>A | ||
| ENST00000644786.1:n.627G>A | ||
| ENST00000644882.1:n.1876G>A | ||
| ENST00000645901.1:n.3819G>A | ||
| ENST00000646391.1:c.*2738G>A | ENSP00000494104.1:n.*2738G>A | |
| ENST00000646625.1:c.2968G>A | ENSP00000496263.1:p.Glu990Lys | |
| ENST00000647262.1:n.1933G>A | ||
| ENST00000647279.1:c.*2207G>A | ENSP00000494502.1:n.*2207G>A | |
| ENST00000647534.1:n.2032G>A | ||
| ENST00000298552.7:c.2968G>A | ENSP00000298552.3:p.Glu990Lys | |
| ENST00000440111.6:c.2968G>A | ENSP00000394524.2:p.Glu990Lys | |
| ENST00000545250.5:c.2815G>A | ENSP00000444017.1:p.Glu939Lys | |
| NM_000368.4:c.2968G>A , LRG_486t1:c.2968G>A | NP_000359.1:p.Glu990Lys | |
| NM_001162426.1:c.2965G>A | NP_001155898.1:p.Glu989Lys | |
| NM_001162427.1:c.2815G>A | NP_001155899.1:p.Glu939Lys | |
| XM_005272211.1:c.2968G>A | XP_005272268.1:p.Glu990Lys | |
| XM_006717271.1:c.2968G>A | XP_006717334.1:p.Glu990Lys | |
| XM_011518979.1:c.2968G>A | XP_011517281.1:p.Glu990Lys | |
| NM_001362177.1:c.2605G>A | NP_001349106.1:p.Glu869Lys | |
| XM_011518979.2:c.2968G>A | XP_011517281.1:p.Glu990Lys | |
| XM_017015096.1:c.2968G>A | XP_016870585.1:p.Glu990Lys | |
| XM_017015097.1:c.2968G>A | XP_016870586.1:p.Glu990Lys | |
| XM_017015098.1:c.2965G>A | XP_016870587.1:p.Glu989Lys | |
| XM_017015100.1:c.2605G>A | XP_016870589.1:p.Glu869Lys | |
| XM_017015101.1:c.2602G>A | XP_016870590.1:p.Glu868Lys | |
| NM_000368.5:c.2968G>A MANE Select | NP_000359.1:p.Glu990Lys | |
| NM_001162426.2:c.2965G>A | NP_001155898.1:p.Glu989Lys | |
| NM_001162427.2:c.2815G>A | NP_001155899.1:p.Glu939Lys | |
| NM_001362177.2:c.2605G>A | NP_001349106.1:p.Glu869Lys |