Linked Data
ClinVar Variation Id:
2865645
ClinVar RCV Id:
RCV003619179
dbSNP Id:
rs188477623
ExAC:
1:40539816 G / A
gnomAD v2:
1-40539816-G-A
gnomAD v3:
1-40074144-G-A
gnomAD v4:
1-40074144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074144G>A , CM000663.2:g.40074144G>A | GRCh38 |
| NC_000001.10:g.40539816G>A , CM000663.1:g.40539816G>A | GRCh37 |
| NC_000001.9:g.40312403G>A | NCBI36 |
| NG_009192.1:g.28327C>T , LRG_690:g.28327C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.835C>T | ENSP00000394863.4:p.Leu279= | |
| ENST00000439754.6:c.766C>T | ENSP00000403207.2:p.Leu256= | |
| ENST00000449045.7:c.529C>T | ENSP00000392293.2:p.Leu177= | |
| ENST00000527311.7:c.607C>T | ENSP00000436695.3:p.Leu203= | |
| ENST00000530076.6:c.181C>T | ENSP00000434007.1:p.Leu61= | |
| ENST00000530704.6:c.*461C>T | ENSP00000431655.1:n.*461C>T | |
| ENST00000641083.1:c.928C>T | ||
| ENST00000641236.1:n.1075C>T | ||
| ENST00000641319.1:c.*48C>T | ENSP00000493128.1:n.*48C>T | |
| ENST00000641381.1:c.260C>T | ||
| ENST00000641471.1:c.925C>T | ENSP00000493146.1:p.Leu309= | |
| ENST00000641691.1:c.*690C>T | ENSP00000492910.1:n.*690C>T | |
| ENST00000641924.1:c.*267C>T | ENSP00000493063.1:n.*267C>T | |
| ENST00000642050.2:c.838C>T MANE Select | ENSP00000493153.1:p.Leu280= | |
| ENST00000372775.2:n.235C>T | ||
| ENST00000433473.7:c.838C>T | ENSP00000394863.3:p.Leu280= | |
| ENST00000439754.5:c.451C>T | ENSP00000403207.1:p.Leu151= | |
| ENST00000449045.6:c.529C>T | ENSP00000392293.2:p.Leu177= | |
| ENST00000527311.6:c.613C>T | ||
| ENST00000529905.5:c.838C>T | ENSP00000432053.1:p.Leu280= | |
| ENST00000530076.5:c.181C>T | ENSP00000434007.1:p.Leu61= | |
| ENST00000530704.5:c.*461C>T | ENSP00000431655.1:n.*461C>T | |
| NM_000310.3:c.838C>T , LRG_690t1:c.838C>T | NP_000301.1:p.Leu280= | |
| NM_001142604.1:c.529C>T | NP_001136076.1:p.Leu177= | |
| XM_005271008.1:c.766C>T | XP_005271065.1:p.Leu256= | |
| NM_001363695.1:c.766C>T | NP_001350624.1:p.Leu256= | |
| NM_000310.4:c.838C>T MANE Select | NP_000301.1:p.Leu280= | |
| NM_001142604.2:c.529C>T | NP_001136076.1:p.Leu177= | |
| NM_001363695.2:c.766C>T | NP_001350624.1:p.Leu256= |