Linked Data
ClinVar Variation Id:
8902
ClinVar RCV Id:
RCV000009453
dbSNP Id:
rs137852698
PubMed:
PMID:9425237
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078630A>T , CM000663.2:g.40078630A>T | GRCh38 |
| NC_000001.10:g.40544302A>T , CM000663.1:g.40544302A>T | GRCh37 |
| NC_000001.9:g.40316889A>T | NCBI36 |
| NG_009192.1:g.23841T>A , LRG_690:g.23841T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.653T>A | ENSP00000394863.4:p.Leu218Gln | |
| ENST00000439754.6:c.656T>A | ENSP00000403207.2:p.Leu219Gln | |
| ENST00000449045.7:c.347T>A | ENSP00000392293.2:p.Leu116Gln | |
| ENST00000527311.7:c.425T>A | ENSP00000436695.3:p.Leu142Gln | |
| ENST00000530076.6:c.-2T>A | ENSP00000434007.1:n.-2T>A | |
| ENST00000530704.6:c.*279T>A | ENSP00000431655.1:n.*279T>A | |
| ENST00000641083.1:c.634T>A | ||
| ENST00000641236.1:n.893T>A | ||
| ENST00000641319.1:c.656T>A | ENSP00000493128.1:p.Leu219Gln | |
| ENST00000641381.1:c.149-1717T>A | ||
| ENST00000641471.1:c.743T>A | ENSP00000493146.1:p.Leu248Gln | |
| ENST00000641691.1:c.*508T>A | ENSP00000492910.1:n.*508T>A | |
| ENST00000641924.1:c.*85T>A | ENSP00000493063.1:n.*85T>A | |
| ENST00000642050.2:c.656T>A MANE Select | ENSP00000493153.1:p.Leu219Gln | |
| ENST00000372775.2:n.53T>A | ||
| ENST00000372779.8:c.743T>A | ENSP00000361865.4:p.Leu248Gln | |
| ENST00000433473.7:c.656T>A | ENSP00000394863.3:p.Leu219Gln | |
| ENST00000439754.5:c.341T>A | ENSP00000403207.1:p.Leu114Gln | |
| ENST00000449045.6:c.347T>A | ENSP00000392293.2:p.Leu116Gln | |
| ENST00000527311.6:c.431T>A | ENSP00000436695.2:p.Leu144Gln | |
| ENST00000529905.5:c.656T>A | ENSP00000432053.1:p.Leu219Gln | |
| ENST00000530076.5:c.-2T>A | ENSP00000434007.1:n.-2T>A | |
| ENST00000530704.5:c.*279T>A | ENSP00000431655.1:n.*279T>A | |
| NM_000310.3:c.656T>A , LRG_690t1:c.656T>A | NP_000301.1:p.Leu219Gln | |
| NM_001142604.1:c.347T>A | NP_001136076.1:p.Leu116Gln | |
| XM_005271008.1:c.656T>A | XP_005271065.1:p.Leu219Gln | |
| NM_001363695.1:c.656T>A | NP_001350624.1:p.Leu219Gln | |
| NM_000310.4:c.656T>A MANE Select | NP_000301.1:p.Leu219Gln | |
| NM_001142604.2:c.347T>A | NP_001136076.1:p.Leu116Gln | |
| NM_001363695.2:c.656T>A | NP_001350624.1:p.Leu219Gln |