Linked Data
ClinVar Variation Id:
182853
dbSNP Id:
rs138557828
ExAC:
17:33428259 G / A
gnomAD v2:
17-33428259-G-A
gnomAD v3:
17-35101240-G-A
gnomAD v4:
17-35101240-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101240G>A , CM000679.2:g.35101240G>A | GRCh38 |
| NC_000017.10:g.33428259G>A , CM000679.1:g.33428259G>A | GRCh37 |
| NC_000017.9:g.30452372G>A | NCBI36 |
| NG_031858.1:g.23630C>T , LRG_516:g.23630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.729C>T | ENSP00000468273.3:p.Gly243= | |
| ENST00000587405.6:c.507C>T | ENSP00000466478.2:p.Gly169= | |
| ENST00000590016.6:c.924C>T | ENSP00000466399.1:p.Gly308= | |
| ENST00000592577.6:c.507C>T | ENSP00000466839.2:p.Gly169= | |
| ENST00000345365.11:c.864C>T MANE Select | ENSP00000338790.6:p.Gly288= | |
| ENST00000335858.11:c.528C>T | ENSP00000338408.6:p.Gly176= | |
| ENST00000345365.10:c.864C>T | ENSP00000338790.6:p.Gly288= | |
| ENST00000394589.8:c.864C>T | ENSP00000378090.4:p.Gly288= | |
| ENST00000460118.6:c.333C>T | ENSP00000464356.2:p.Gly111= | |
| ENST00000586044.5:c.*595C>T | ENSP00000465584.1:n.*595C>T | |
| ENST00000586210.5:c.*458C>T | ENSP00000465612.1:n.*458C>T | |
| ENST00000587977.5:c.*604C>T | ENSP00000466587.1:n.*604C>T | |
| ENST00000588372.5:c.*347C>T | ENSP00000468764.1:n.*347C>T | |
| ENST00000588594.5:c.*460C>T | ENSP00000465366.1:n.*460C>T | |
| ENST00000590016.5:c.924C>T | ENSP00000466399.1:p.Gly308= | |
| ENST00000591723.5:c.333C>T | ENSP00000467986.1:p.Gly111= | |
| ENST00000592181.1:c.507C>T | ENSP00000464799.1:p.Gly169= | |
| ENST00000593039.5:c.387C>T | ENSP00000466834.1:p.Gly129= | |
| NM_001142571.1:c.924C>T | NP_001136043.1:p.Gly308= | |
| NM_002878.3:c.864C>T , LRG_516t1:c.864C>T | NP_002869.3:p.Gly288= | |
| NM_133629.2:c.528C>T | NP_598332.1:p.Gly176= | |
| NR_037711.1:n.1001C>T | ||
| NR_037712.1:n.866C>T | ||
| NR_037714.1:n.616C>T | ||
| NM_001142571.2:c.924C>T | NP_001136043.1:p.Gly308= | |
| NM_133629.3:c.528C>T | NP_598332.1:p.Gly176= | |
| NR_037711.2:n.890C>T | ||
| NR_037712.2:n.755C>T | ||
| NM_002878.4:c.864C>T MANE Select | NP_002869.3:p.Gly288= |