Linked Data
ClinVar Variation Id:
141519
ClinVar RCV Id:
RCV000130084
RCV000255993
RCV000411407
RCV001357548
RCV001193713
RCV002508924
RCV003492595
RCV003483498
RCV003891666
dbSNP Id:
rs587781813
ExAC:
17:33428327 G / A
gnomAD v2:
17-33428327-G-A
gnomAD v3:
17-35101308-G-A
gnomAD v4:
17-35101308-G-A
PubMed:
PMID:23372765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35101308G>A , CM000679.2:g.35101308G>A | GRCh38 |
| NC_000017.10:g.33428327G>A , CM000679.1:g.33428327G>A | GRCh37 |
| NC_000017.9:g.30452440G>A | NCBI36 |
| NG_031858.1:g.23562C>T , LRG_516:g.23562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.661C>T | ENSP00000468273.3:p.Arg221Cys | |
| ENST00000587405.6:c.439C>T | ENSP00000466478.2:p.Arg147Cys | |
| ENST00000590016.6:c.856C>T | ENSP00000466399.1:p.Arg286Cys | |
| ENST00000592577.6:c.439C>T | ENSP00000466839.2:p.Arg147Cys | |
| ENST00000345365.11:c.796C>T MANE Select | ENSP00000338790.6:p.Arg266Cys | |
| ENST00000335858.11:c.460C>T | ENSP00000338408.6:p.Arg154Cys | |
| ENST00000345365.10:c.796C>T | ENSP00000338790.6:p.Arg266Cys | |
| ENST00000394589.8:c.796C>T | ENSP00000378090.4:p.Arg266Cys | |
| ENST00000460118.6:c.265C>T | ENSP00000464356.2:p.Arg89Cys | |
| ENST00000586044.5:c.*527C>T | ENSP00000465584.1:n.*527C>T | |
| ENST00000586210.5:c.*390C>T | ENSP00000465612.1:n.*390C>T | |
| ENST00000587977.5:c.*536C>T | ENSP00000466587.1:n.*536C>T | |
| ENST00000588372.5:c.*279C>T | ENSP00000468764.1:n.*279C>T | |
| ENST00000588594.5:c.*392C>T | ENSP00000465366.1:n.*392C>T | |
| ENST00000590016.5:c.856C>T | ENSP00000466399.1:p.Arg286Cys | |
| ENST00000591723.5:c.265C>T | ENSP00000467986.1:p.Arg89Cys | |
| ENST00000592181.1:c.439C>T | ENSP00000464799.1:p.Arg147Cys | |
| ENST00000593039.5:c.319C>T | ENSP00000466834.1:p.Arg107Cys | |
| NM_001142571.1:c.856C>T | NP_001136043.1:p.Arg286Cys | |
| NM_002878.3:c.796C>T , LRG_516t1:c.796C>T | NP_002869.3:p.Arg266Cys | |
| NM_133629.2:c.460C>T | NP_598332.1:p.Arg154Cys | |
| NR_037711.1:n.933C>T | ||
| NR_037712.1:n.798C>T | ||
| NR_037714.1:n.548C>T | ||
| NM_001142571.2:c.856C>T | NP_001136043.1:p.Arg286Cys | |
| NM_133629.3:c.460C>T | NP_598332.1:p.Arg154Cys | |
| NR_037711.2:n.822C>T | ||
| NR_037712.2:n.687C>T | ||
| NM_002878.4:c.796C>T MANE Select | NP_002869.3:p.Arg266Cys |