Linked Data
ClinVar Variation Id:
12125
ClinVar RCV Id:
RCV002496331
dbSNP Id:
rs121964917
ExAC:
4:110670750 G / A
gnomAD v2:
4-110670750-G-A
gnomAD v3:
4-109749594-G-A
gnomAD v4:
4-109749594-G-A
PubMed:
PMID:16621965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109749594G>A , CM000666.2:g.109749594G>A | GRCh38 |
| NC_000004.11:g.110670750G>A , CM000666.1:g.110670750G>A | GRCh37 |
| NC_000004.10:g.110890199G>A | NCBI36 |
| NG_007569.1:g.57392C>T , LRG_48:g.57392C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695844.1:n.1128C>T | ||
| ENST00000695845.1:n.1127C>T | ||
| ENST00000695846.1:n.973C>T | ||
| ENST00000394634.7:c.949C>T MANE Select | ENSP00000378130.2:p.Arg317Trp | |
| ENST00000394635.8:c.973C>T | ENSP00000378131.3:p.Arg325Trp | |
| ENST00000645635.1:c.949C>T | ENSP00000493607.1:p.Arg317Trp | |
| ENST00000394634.6:c.949C>T | ENSP00000378130.2:p.Arg317Trp | |
| ENST00000394635.7:c.973C>T | ENSP00000378131.3:p.Arg325Trp | |
| ENST00000504853.3:n.1366C>T | ||
| ENST00000512148.5:c.928C>T | ENSP00000427438.1:p.Arg310Trp | |
| ENST00000618244.4:c.949C>T | ENSP00000483416.1:p.Arg317Trp | |
| NM_000204.3:c.949C>T , LRG_48t1:c.949C>T | NP_000195.2:p.Arg317Trp | |
| XM_005262975.1:c.973C>T | XP_005263032.1:p.Arg325Trp | |
| XM_005262976.1:c.928C>T | XP_005263033.1:p.Arg310Trp | |
| XM_006714209.1:c.970C>T | XP_006714272.1:p.Arg324Trp | |
| XM_006714210.2:c.973C>T | XP_006714273.1:p.Arg325Trp | |
| XM_011531920.1:c.973C>T | XP_011530222.1:p.Arg325Trp | |
| NM_000204.4:c.949C>T | NP_000195.2:p.Arg317Trp | |
| NM_001318057.1:c.973C>T | NP_001304986.1:p.Arg325Trp | |
| NM_001331035.1:c.928C>T | NP_001317964.1:p.Arg310Trp | |
| XM_006714210.4:c.973C>T | XP_006714273.1:p.Arg325Trp | |
| XM_011531920.2:c.973C>T | XP_011530222.1:p.Arg325Trp | |
| XM_017008164.2:c.949C>T | XP_016863653.1:p.Arg317Trp | |
| XM_017008165.2:c.928C>T | XP_016863654.1:p.Arg310Trp | |
| XM_017008166.2:c.949C>T | XP_016863655.1:p.Arg317Trp | |
| NM_001318057.2:c.973C>T | NP_001304986.2:p.Arg325Trp | |
| NM_001331035.2:c.928C>T | NP_001317964.1:p.Arg310Trp | |
| NM_001375278.1:c.973C>T | NP_001362207.1:p.Arg325Trp | |
| NM_001375279.1:c.949C>T | NP_001362208.1:p.Arg317Trp | |
| NM_001375280.1:c.928C>T | NP_001362209.1:p.Arg310Trp | |
| NM_001375281.1:c.949C>T | NP_001362210.1:p.Arg317Trp | |
| NM_001375282.1:c.928C>T | NP_001362211.1:p.Arg310Trp | |
| NM_001375283.1:c.892C>T | NP_001362212.1:p.Arg298Trp | |
| NM_001375284.1:c.340C>T | NP_001362213.1:p.Arg114Trp | |
| NR_164671.1:n.977C>T | ||
| NR_164672.1:n.1001C>T | ||
| NR_164673.1:n.977C>T | ||
| NM_000204.5:c.949C>T MANE Select | NP_000195.3:p.Arg317Trp |