Linked Data
ClinVar Variation Id:
56204
dbSNP Id:
rs386833655
ExAC:
1:40546146 C / T
gnomAD v2:
1-40546146-C-T
gnomAD v3:
1-40080474-C-T
gnomAD v4:
1-40080474-C-T
COSMIC:
COSM4007892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080474C>T , CM000663.2:g.40080474C>T | GRCh38 |
| NC_000001.10:g.40546146C>T , CM000663.1:g.40546146C>T | GRCh37 |
| NC_000001.9:g.40318733C>T | NCBI36 |
| NG_009192.1:g.21997G>A , LRG_690:g.21997G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*386G>A | ENSP00000361865.5:n.*386G>A | |
| ENST00000433473.8:c.547G>A | ENSP00000394863.4:p.Glu183Lys | |
| ENST00000439754.6:c.550G>A | ENSP00000403207.2:p.Glu184Lys | |
| ENST00000449045.7:c.241G>A | ENSP00000392293.2:p.Glu81Lys | |
| ENST00000527311.7:c.319G>A | ENSP00000436695.3:p.Glu107Lys | |
| ENST00000530076.6:c.-108G>A | ENSP00000434007.1:n.-108G>A | |
| ENST00000530704.6:c.*173G>A | ENSP00000431655.1:n.*173G>A | |
| ENST00000641083.1:c.528G>A | ||
| ENST00000641236.1:n.787G>A | ||
| ENST00000641319.1:c.550G>A | ENSP00000493128.1:p.Glu184Lys | |
| ENST00000641381.1:c.149-3561G>A | ||
| ENST00000641471.1:c.637G>A | ENSP00000493146.1:p.Glu213Lys | |
| ENST00000641691.1:c.*402G>A | ENSP00000492910.1:n.*402G>A | |
| ENST00000641924.1:c.138G>A | ENSP00000493063.1:p.Pro46= | |
| ENST00000642050.2:c.550G>A MANE Select | ENSP00000493153.1:p.Glu184Lys | |
| ENST00000372779.8:c.637G>A | ENSP00000361865.4:p.Glu213Lys | |
| ENST00000433473.7:c.550G>A | ENSP00000394863.3:p.Glu184Lys | |
| ENST00000439754.5:c.235G>A | ENSP00000403207.1:p.Glu79Lys | |
| ENST00000449045.6:c.241G>A | ENSP00000392293.2:p.Glu81Lys | |
| ENST00000527311.6:c.325G>A | ENSP00000436695.2:p.Glu109Lys | |
| ENST00000529905.5:c.550G>A | ENSP00000432053.1:p.Glu184Lys | |
| ENST00000530076.5:c.-108G>A | ENSP00000434007.1:n.-108G>A | |
| ENST00000530704.5:c.*173G>A | ENSP00000431655.1:n.*173G>A | |
| NM_000310.3:c.550G>A , LRG_690t1:c.550G>A | NP_000301.1:p.Glu184Lys | |
| NM_001142604.1:c.241G>A | NP_001136076.1:p.Glu81Lys | |
| XM_005271008.1:c.550G>A | XP_005271065.1:p.Glu184Lys | |
| NM_001363695.1:c.550G>A | NP_001350624.1:p.Glu184Lys | |
| NM_000310.4:c.550G>A MANE Select | NP_000301.1:p.Glu184Lys | |
| NM_001142604.2:c.241G>A | NP_001136076.1:p.Glu81Lys | |
| NM_001363695.2:c.550G>A | NP_001350624.1:p.Glu184Lys |