Linked Data
ClinVar Variation Id:
410552
dbSNP Id:
rs750219200
ExAC:
17:33428320 C / T
gnomAD v2:
17-33428320-C-T
gnomAD v3:
17-35101301-C-T
gnomAD v4:
17-35101301-C-T
PubMed:
PMID:21822267
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101301C>T , CM000679.2:g.35101301C>T | GRCh38 |
| NC_000017.10:g.33428320C>T , CM000679.1:g.33428320C>T | GRCh37 |
| NC_000017.9:g.30452433C>T | NCBI36 |
| NG_031858.1:g.23569G>A , LRG_516:g.23569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.668G>A | ENSP00000468273.3:p.Trp223Ter | |
| ENST00000587405.6:c.446G>A | ENSP00000466478.2:p.Trp149Ter | |
| ENST00000590016.6:c.863G>A | ENSP00000466399.1:p.Trp288Ter | |
| ENST00000592577.6:c.446G>A | ENSP00000466839.2:p.Trp149Ter | |
| ENST00000345365.11:c.803G>A MANE Select | ENSP00000338790.6:p.Trp268Ter | |
| ENST00000335858.11:c.467G>A | ENSP00000338408.6:p.Trp156Ter | |
| ENST00000345365.10:c.803G>A | ENSP00000338790.6:p.Trp268Ter | |
| ENST00000394589.8:c.803G>A | ENSP00000378090.4:p.Trp268Ter | |
| ENST00000460118.6:c.272G>A | ENSP00000464356.2:p.Trp91Ter | |
| ENST00000586044.5:c.*534G>A | ENSP00000465584.1:n.*534G>A | |
| ENST00000586210.5:c.*397G>A | ENSP00000465612.1:n.*397G>A | |
| ENST00000587977.5:c.*543G>A | ENSP00000466587.1:n.*543G>A | |
| ENST00000588372.5:c.*286G>A | ENSP00000468764.1:n.*286G>A | |
| ENST00000588594.5:c.*399G>A | ENSP00000465366.1:n.*399G>A | |
| ENST00000590016.5:c.863G>A | ENSP00000466399.1:p.Trp288Ter | |
| ENST00000591723.5:c.272G>A | ENSP00000467986.1:p.Trp91Ter | |
| ENST00000592181.1:c.446G>A | ENSP00000464799.1:p.Trp149Ter | |
| ENST00000593039.5:c.326G>A | ENSP00000466834.1:p.Trp109Ter | |
| NM_001142571.1:c.863G>A | NP_001136043.1:p.Trp288Ter | |
| NM_002878.3:c.803G>A , LRG_516t1:c.803G>A | NP_002869.3:p.Trp268Ter | |
| NM_133629.2:c.467G>A | NP_598332.1:p.Trp156Ter | |
| NR_037711.1:n.940G>A | ||
| NR_037712.1:n.805G>A | ||
| NR_037714.1:n.555G>A | ||
| NM_001142571.2:c.863G>A | NP_001136043.1:p.Trp288Ter | |
| NM_133629.3:c.467G>A | NP_598332.1:p.Trp156Ter | |
| NR_037711.2:n.829G>A | ||
| NR_037712.2:n.694G>A | ||
| NM_002878.4:c.803G>A MANE Select | NP_002869.3:p.Trp268Ter |