Linked Data
ClinVar Variation Id:
1158007
ClinVar RCV Id:
RCV001501244
dbSNP Id:
rs2124486877
MyVariant Identifiers:
chr1:g.40557056C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40091384C>T , CM000663.2:g.40091384C>T | GRCh38 |
| NC_000001.10:g.40557056C>T , CM000663.1:g.40557056C>T | GRCh37 |
| NC_000001.9:g.40329643C>T | NCBI36 |
| NG_009192.1:g.11087G>A , LRG_690:g.11087G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*214G>A | ENSP00000361865.5:n.*214G>A | |
| ENST00000433473.8:c.375G>A | ENSP00000394863.4:p.Gln125= | |
| ENST00000439754.6:c.378G>A | ENSP00000403207.2:p.Gln126= | |
| ENST00000449045.7:c.125-1872G>A | ENSP00000392293.2:n.125-1872G>A | |
| ENST00000526547.2:c.658G>A | ||
| ENST00000527311.7:c.250G>A | ENSP00000436695.3:p.Glu84Lys | |
| ENST00000530704.6:c.378G>A | ENSP00000431655.1:p.Gln126= | |
| ENST00000641083.1:c.356G>A | ||
| ENST00000641236.1:n.615G>A | ||
| ENST00000641319.1:c.378G>A | ENSP00000493128.1:p.Gln126= | |
| ENST00000641471.1:c.465G>A | ENSP00000493146.1:p.Gln155= | |
| ENST00000641548.1:c.*230G>A | ENSP00000492984.1:n.*230G>A | |
| ENST00000641691.1:c.*230G>A | ENSP00000492910.1:n.*230G>A | |
| ENST00000641924.1:c.124+5731G>A | ENSP00000493063.1:n.124+5731G>A | |
| ENST00000642050.2:c.378G>A MANE Select | ENSP00000493153.1:p.Gln126= | |
| ENST00000372779.8:c.465G>A | ENSP00000361865.4:p.Gln155= | |
| ENST00000433473.7:c.378G>A | ENSP00000394863.3:p.Gln126= | |
| ENST00000439754.5:c.63G>A | ENSP00000403207.1:p.Gln21= | |
| ENST00000449045.6:c.125-1872G>A | ENSP00000392293.2:n.125-1872G>A | |
| ENST00000526547.1:c.228G>A | ENSP00000436481.1:p.Gln76= | |
| ENST00000527311.6:c.153G>A | ENSP00000436695.2:p.Gln51= | |
| ENST00000529905.5:c.378G>A | ENSP00000432053.1:p.Gln126= | |
| ENST00000530704.5:c.378G>A | ENSP00000431655.1:p.Gln126= | |
| NM_000310.3:c.378G>A , LRG_690t1:c.378G>A | NP_000301.1:p.Gln126= | |
| NM_001142604.1:c.125-1872G>A | NP_001136076.1:n.125-1872G>A | |
| XM_005271008.1:c.378G>A | XP_005271065.1:p.Gln126= | |
| NM_001363695.1:c.378G>A | NP_001350624.1:p.Gln126= | |
| NM_000310.4:c.378G>A MANE Select | NP_000301.1:p.Gln126= | |
| NM_001142604.2:c.125-1872G>A | NP_001136076.1:n.125-1872G>A | |
| NM_001363695.2:c.378G>A | NP_001350624.1:p.Gln126= |