Linked Data
ClinVar Variation Id:
198413
dbSNP Id:
rs746043871
ExAC:
1:40544236 G / A
gnomAD v2:
1-40544236-G-A
gnomAD v3:
1-40078564-G-A
gnomAD v4:
1-40078564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40078564G>A , CM000663.2:g.40078564G>A | GRCh38 |
| NC_000001.10:g.40544236G>A , CM000663.1:g.40544236G>A | GRCh37 |
| NC_000001.9:g.40316823G>A | NCBI36 |
| NG_009192.1:g.23907C>T , LRG_690:g.23907C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.719C>T | ENSP00000394863.4:p.Ser240Leu | |
| ENST00000439754.6:c.722C>T | ENSP00000403207.2:p.Ser241Leu | |
| ENST00000449045.7:c.413C>T | ENSP00000392293.2:p.Ser138Leu | |
| ENST00000527311.7:c.491C>T | ENSP00000436695.3:p.Ser164Leu | |
| ENST00000530076.6:c.65C>T | ENSP00000434007.1:p.Ser22Leu | |
| ENST00000530704.6:c.*345C>T | ENSP00000431655.1:n.*345C>T | |
| ENST00000641083.1:c.700C>T | ||
| ENST00000641236.1:n.959C>T | ||
| ENST00000641319.1:c.722C>T | ENSP00000493128.1:p.Ser241Leu | |
| ENST00000641381.1:c.149-1651C>T | ||
| ENST00000641471.1:c.809C>T | ENSP00000493146.1:p.Ser270Leu | |
| ENST00000641691.1:c.*574C>T | ENSP00000492910.1:n.*574C>T | |
| ENST00000641924.1:c.*151C>T | ENSP00000493063.1:n.*151C>T | |
| ENST00000642050.2:c.722C>T MANE Select | ENSP00000493153.1:p.Ser241Leu | |
| ENST00000372775.2:n.119C>T | ||
| ENST00000372779.8:c.809C>T | ENSP00000361865.4:p.Ser270Leu | |
| ENST00000433473.7:c.722C>T | ENSP00000394863.3:p.Ser241Leu | |
| ENST00000439754.5:c.407C>T | ENSP00000403207.1:p.Ser136Leu | |
| ENST00000449045.6:c.413C>T | ENSP00000392293.2:p.Ser138Leu | |
| ENST00000527311.6:c.497C>T | ENSP00000436695.2:p.Ser166Leu | |
| ENST00000529905.5:c.722C>T | ENSP00000432053.1:p.Ser241Leu | |
| ENST00000530076.5:c.65C>T | ENSP00000434007.1:p.Ser22Leu | |
| ENST00000530704.5:c.*345C>T | ENSP00000431655.1:n.*345C>T | |
| NM_000310.3:c.722C>T , LRG_690t1:c.722C>T | NP_000301.1:p.Ser241Leu | |
| NM_001142604.1:c.413C>T | NP_001136076.1:p.Ser138Leu | |
| XM_005271008.1:c.722C>T | XP_005271065.1:p.Ser241Leu | |
| NM_001363695.1:c.722C>T | NP_001350624.1:p.Ser241Leu | |
| NM_000310.4:c.722C>T MANE Select | NP_000301.1:p.Ser241Leu | |
| NM_001142604.2:c.413C>T | NP_001136076.1:p.Ser138Leu | |
| NM_001363695.2:c.722C>T | NP_001350624.1:p.Ser241Leu |