Linked Data
ClinVar Variation Id:
484763
dbSNP Id:
rs771007945
ExAC:
17:33430485 G / A
gnomAD v2:
17-33430485-G-A
gnomAD v4:
17-35103466-G-A
PubMed:
PMID:26261251
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35103466G>A , CM000679.2:g.35103466G>A | GRCh38 |
| NC_000017.10:g.33430485G>A , CM000679.1:g.33430485G>A | GRCh37 |
| NC_000017.9:g.30454598G>A | NCBI36 |
| NG_031858.1:g.21404C>T , LRG_516:g.21404C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.520C>T | ENSP00000468273.3:p.Gln174Ter | |
| ENST00000587405.6:c.298C>T | ENSP00000466478.2:p.Gln100Ter | |
| ENST00000590016.6:c.715C>T | ENSP00000466399.1:p.Gln239Ter | |
| ENST00000592577.6:c.298C>T | ENSP00000466839.2:p.Gln100Ter | |
| ENST00000345365.11:c.655C>T MANE Select | ENSP00000338790.6:p.Gln219Ter | |
| ENST00000335858.11:c.319C>T | ENSP00000338408.6:p.Gln107Ter | |
| ENST00000345365.10:c.655C>T | ENSP00000338790.6:p.Gln219Ter | |
| ENST00000394589.8:c.655C>T | ENSP00000378090.4:p.Gln219Ter | |
| ENST00000460118.6:c.124C>T | ENSP00000464356.2:p.Gln42Ter | |
| ENST00000586044.5:c.*386C>T | ENSP00000465584.1:n.*386C>T | |
| ENST00000586210.5:c.*249C>T | ENSP00000465612.1:n.*249C>T | |
| ENST00000587405.5:c.298C>T | ENSP00000466478.1:p.Gln100Ter | |
| ENST00000587977.5:c.*395C>T | ENSP00000466587.1:n.*395C>T | |
| ENST00000588372.5:c.*138C>T | ENSP00000468764.1:n.*138C>T | |
| ENST00000588594.5:c.*251C>T | ENSP00000465366.1:n.*251C>T | |
| ENST00000590016.5:c.715C>T | ENSP00000466399.1:p.Gln239Ter | |
| ENST00000591723.5:c.124C>T | ENSP00000467986.1:p.Gln42Ter | |
| ENST00000592181.1:c.298C>T | ENSP00000464799.1:p.Gln100Ter | |
| ENST00000592577.5:c.661C>T | ENSP00000466839.1:p.Gln221Ter | |
| ENST00000593039.5:c.178C>T | ENSP00000466834.1:p.Gln60Ter | |
| NM_001142571.1:c.715C>T | NP_001136043.1:p.Gln239Ter | |
| NM_002878.3:c.655C>T , LRG_516t1:c.655C>T | NP_002869.3:p.Gln219Ter | |
| NM_133629.2:c.319C>T | NP_598332.1:p.Gln107Ter | |
| NR_037711.1:n.792C>T | ||
| NR_037712.1:n.657C>T | ||
| NR_037714.1:n.407C>T | ||
| NM_001142571.2:c.715C>T | NP_001136043.1:p.Gln239Ter | |
| NM_133629.3:c.319C>T | NP_598332.1:p.Gln107Ter | |
| NR_037711.2:n.681C>T | ||
| NR_037712.2:n.546C>T | ||
| NM_002878.4:c.655C>T MANE Select | NP_002869.3:p.Gln219Ter |