Linked Data
ClinVar Variation Id:
141452
dbSNP Id:
rs587781756
gnomAD v2:
17-33434036-G-A
gnomAD v3:
17-35107017-G-A
gnomAD v4:
17-35107017-G-A
PubMed:
PMID:26720728
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107017G>A , CM000679.2:g.35107017G>A | GRCh38 |
| NC_000017.10:g.33434036G>A , CM000679.1:g.33434036G>A | GRCh37 |
| NC_000017.9:g.30458149G>A | NCBI36 |
| NG_031858.1:g.17853C>T , LRG_516:g.17853C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+349C>T | ENSP00000468273.3:n.345+349C>T | |
| ENST00000587405.6:c.94C>T | ENSP00000466478.2:p.Gln32Ter | |
| ENST00000590016.6:c.511C>T | ENSP00000466399.1:p.Gln171Ter | |
| ENST00000590631.2:n.437-536C>T | ||
| ENST00000592577.6:c.94C>T | ENSP00000466839.2:p.Gln32Ter | |
| ENST00000345365.11:c.451C>T MANE Select | ENSP00000338790.6:p.Gln151Ter | |
| ENST00000335858.11:c.145-536C>T | ENSP00000338408.6:n.145-536C>T | |
| ENST00000345365.10:c.451C>T | ENSP00000338790.6:p.Gln151Ter | |
| ENST00000394589.8:c.451C>T | ENSP00000378090.4:p.Gln151Ter | |
| ENST00000415064.6:n.601C>T | ||
| ENST00000460118.6:c.-81C>T | ENSP00000464356.2:n.-81C>T | |
| ENST00000585343.5:c.533C>T | ||
| ENST00000585947.5:n.347C>T | ||
| ENST00000585982.5:n.500+349C>T | ||
| ENST00000586044.5:c.*182C>T | ENSP00000465584.1:n.*182C>T | |
| ENST00000586186.2:c.248+349C>T | ||
| ENST00000586210.5:c.*45C>T | ENSP00000465612.1:n.*45C>T | |
| ENST00000587405.5:c.94C>T | ENSP00000466478.1:p.Gln32Ter | |
| ENST00000587977.5:c.*191C>T | ENSP00000466587.1:n.*191C>T | |
| ENST00000587982.5:n.273+349C>T | ||
| ENST00000588372.5:c.94C>T | ENSP00000468764.1:p.Gln32Ter | |
| ENST00000588594.5:c.*76+349C>T | ENSP00000465366.1:n.*76+349C>T | |
| ENST00000590016.5:c.511C>T | ENSP00000466399.1:p.Gln171Ter | |
| ENST00000590631.1:c.-51-536C>T | ENSP00000465033.1:n.-51-536C>T | |
| ENST00000591723.5:c.-52+349C>T | ENSP00000467986.1:n.-52+349C>T | |
| ENST00000592181.1:c.94C>T | ENSP00000464799.1:p.Gln32Ter | |
| ENST00000592430.5:n.420C>T | ||
| ENST00000592577.5:c.457C>T | ENSP00000466839.1:p.Gln153Ter | |
| ENST00000592850.5:c.346-536C>T | ||
| ENST00000592928.2:n.167-536C>T | ||
| ENST00000593039.5:c.4-536C>T | ENSP00000466834.1:n.4-536C>T | |
| NM_001142571.1:c.511C>T | NP_001136043.1:p.Gln171Ter | |
| NM_002878.3:c.451C>T , LRG_516t1:c.451C>T | NP_002869.3:p.Gln151Ter | |
| NM_133629.2:c.145-536C>T | NP_598332.1:n.145-536C>T | |
| NR_037711.1:n.588C>T | ||
| NR_037712.1:n.482+349C>T | ||
| NR_037714.1:n.233-536C>T | ||
| NM_001142571.2:c.511C>T | NP_001136043.1:p.Gln171Ter | |
| NM_133629.3:c.145-536C>T | NP_598332.1:n.145-536C>T | |
| NR_037711.2:n.477C>T | ||
| NR_037712.2:n.371+349C>T | ||
| NM_002878.4:c.451C>T MANE Select | NP_002869.3:p.Gln151Ter |