Linked Data
ClinVar Variation Id:
1404308
ClinVar RCV Id:
RCV001927690
dbSNP Id:
rs1447656117
gnomAD v3:
1-40074152-G-A
gnomAD v4:
1-40074152-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40074152G>A , CM000663.2:g.40074152G>A | GRCh38 |
| NC_000001.10:g.40539824G>A , CM000663.1:g.40539824G>A | GRCh37 |
| NC_000001.9:g.40312411G>A | NCBI36 |
| NG_009192.1:g.28319C>T , LRG_690:g.28319C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.827C>T | ENSP00000394863.4:p.Ala276Val | |
| ENST00000439754.6:c.758C>T | ENSP00000403207.2:p.Ala253Val | |
| ENST00000449045.7:c.521C>T | ENSP00000392293.2:p.Ala174Val | |
| ENST00000527311.7:c.599C>T | ENSP00000436695.3:p.Ala200Val | |
| ENST00000530076.6:c.173C>T | ENSP00000434007.1:p.Ala58Val | |
| ENST00000530704.6:c.*453C>T | ENSP00000431655.1:n.*453C>T | |
| ENST00000641083.1:c.920C>T | ||
| ENST00000641236.1:n.1067C>T | ||
| ENST00000641319.1:c.*40C>T | ENSP00000493128.1:n.*40C>T | |
| ENST00000641381.1:c.252C>T | ||
| ENST00000641471.1:c.917C>T | ENSP00000493146.1:p.Ala306Val | |
| ENST00000641691.1:c.*682C>T | ENSP00000492910.1:n.*682C>T | |
| ENST00000641924.1:c.*259C>T | ENSP00000493063.1:n.*259C>T | |
| ENST00000642050.2:c.830C>T MANE Select | ENSP00000493153.1:p.Ala277Val | |
| ENST00000372775.2:n.227C>T | ||
| ENST00000433473.7:c.830C>T | ENSP00000394863.3:p.Ala277Val | |
| ENST00000439754.5:c.443C>T | ENSP00000403207.1:p.Ala148Val | |
| ENST00000449045.6:c.521C>T | ENSP00000392293.2:p.Ala174Val | |
| ENST00000527311.6:c.605C>T | ENSP00000436695.2:p.Ala202Val | |
| ENST00000529905.5:c.830C>T | ENSP00000432053.1:p.Ala277Val | |
| ENST00000530076.5:c.173C>T | ENSP00000434007.1:p.Ala58Val | |
| ENST00000530704.5:c.*453C>T | ENSP00000431655.1:n.*453C>T | |
| NM_000310.3:c.830C>T , LRG_690t1:c.830C>T | NP_000301.1:p.Ala277Val | |
| NM_001142604.1:c.521C>T | NP_001136076.1:p.Ala174Val | |
| XM_005271008.1:c.758C>T | XP_005271065.1:p.Ala253Val | |
| NM_001363695.1:c.758C>T | NP_001350624.1:p.Ala253Val | |
| NM_000310.4:c.830C>T MANE Select | NP_000301.1:p.Ala277Val | |
| NM_001142604.2:c.521C>T | NP_001136076.1:p.Ala174Val | |
| NM_001363695.2:c.758C>T | NP_001350624.1:p.Ala253Val |