Linked Data
ClinVar Variation Id:
533951
dbSNP Id:
rs199708990
ExAC:
1:40539779 A / G
gnomAD v2:
1-40539779-A-G
gnomAD v3:
1-40074107-A-G
gnomAD v4:
1-40074107-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074107A>G , CM000663.2:g.40074107A>G | GRCh38 |
| NC_000001.10:g.40539779A>G , CM000663.1:g.40539779A>G | GRCh37 |
| NC_000001.9:g.40312366A>G | NCBI36 |
| NG_009192.1:g.28364T>C , LRG_690:g.28364T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.872T>C | ENSP00000394863.4:p.Leu291Ser | |
| ENST00000439754.6:c.803T>C | ENSP00000403207.2:p.Leu268Ser | |
| ENST00000449045.7:c.566T>C | ENSP00000392293.2:p.Leu189Ser | |
| ENST00000530076.6:c.218T>C | ENSP00000434007.1:p.Leu73Ser | |
| ENST00000530704.6:c.*498T>C | ENSP00000431655.1:n.*498T>C | |
| ENST00000641083.1:c.965T>C | ||
| ENST00000641236.1:n.1112T>C | ||
| ENST00000641319.1:c.*85T>C | ENSP00000493128.1:n.*85T>C | |
| ENST00000641381.1:c.297T>C | ||
| ENST00000641471.1:c.962T>C | ENSP00000493146.1:p.Leu321Ser | |
| ENST00000641691.1:c.*727T>C | ENSP00000492910.1:n.*727T>C | |
| ENST00000641924.1:c.*304T>C | ENSP00000493063.1:n.*304T>C | |
| ENST00000642050.2:c.875T>C MANE Select | ENSP00000493153.1:p.Leu292Ser | |
| ENST00000372775.2:n.272T>C | ||
| ENST00000433473.7:c.875T>C | ENSP00000394863.3:p.Leu292Ser | |
| ENST00000439754.5:c.488T>C | ENSP00000403207.1:p.Leu163Ser | |
| ENST00000449045.6:c.566T>C | ENSP00000392293.2:p.Leu189Ser | |
| ENST00000529905.5:c.875T>C | ENSP00000432053.1:p.Leu292Ser | |
| ENST00000530076.5:c.218T>C | ENSP00000434007.1:p.Leu73Ser | |
| ENST00000530704.5:c.*498T>C | ENSP00000431655.1:n.*498T>C | |
| NM_000310.3:c.875T>C , LRG_690t1:c.875T>C | NP_000301.1:p.Leu292Ser | |
| NM_001142604.1:c.566T>C | NP_001136076.1:p.Leu189Ser | |
| XM_005271008.1:c.803T>C | XP_005271065.1:p.Leu268Ser | |
| NM_001363695.1:c.803T>C | NP_001350624.1:p.Leu268Ser | |
| NM_000310.4:c.875T>C MANE Select | NP_000301.1:p.Leu292Ser | |
| NM_001142604.2:c.566T>C | NP_001136076.1:p.Leu189Ser | |
| NM_001363695.2:c.803T>C | NP_001350624.1:p.Leu268Ser |