Linked Data
ClinVar Variation Id:
418642
dbSNP Id:
rs139785364
ExAC:
2:215593483 G / A
gnomAD v2:
2-215593483-G-A
gnomAD v3:
2-214728759-G-A
gnomAD v4:
2-214728759-G-A
PubMed:
PMID:23056176
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728759G>A , CM000664.2:g.214728759G>A | GRCh38 |
| NC_000002.11:g.215593483G>A , CM000664.1:g.215593483G>A | GRCh37 |
| NC_000002.10:g.215301728G>A | NCBI36 |
| NG_012047.2:g.85946C>T | |
| NG_012047.3:g.85953C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2251C>T MANE Select | ENSP00000260947.4:p.Arg751Trp | |
| ENST00000421162.2:c.898C>T | ENSP00000392245.2:p.Arg300Trp | |
| ENST00000613192.2:c.*314C>T | ENSP00000483275.2:n.*314C>T | |
| ENST00000613374.5:c.841C>T | ENSP00000484464.1:p.Arg281Trp | |
| ENST00000613706.5:c.1843C>T | ENSP00000484976.2:p.Arg615Trp | |
| ENST00000617164.5:c.2194C>T | ENSP00000480470.1:p.Arg732Trp | |
| ENST00000619009.5:c.712C>T | ENSP00000482293.1:p.Arg238Trp | |
| ENST00000650978.1:c.3626C>T | ||
| ENST00000260947.8:c.2251C>T | ENSP00000260947.4:p.Arg751Trp | |
| ENST00000432456.5:c.394C>T | ||
| ENST00000455743.5:c.*1871C>T | ENSP00000412186.1:n.*1871C>T | |
| ENST00000471590.5:n.586C>T | ||
| ENST00000613192.1:c.421C>T | ENSP00000483275.1:p.Arg141Trp | |
| ENST00000613374.4:c.841C>T | ENSP00000484464.1:p.Arg281Trp | |
| ENST00000613706.4:c.898C>T | ENSP00000484976.1:p.Arg300Trp | |
| ENST00000617164.4:c.2194C>T | ENSP00000480470.1:p.Arg732Trp | |
| ENST00000619009.4:c.712C>T | ENSP00000482293.1:p.Arg238Trp | |
| ENST00000620057.4:c.*917C>T | ENSP00000481988.1:n.*917C>T | |
| NM_000465.3:c.2251C>T | NP_000456.2:p.Arg751Trp | |
| NM_001282543.1:c.2194C>T | NP_001269472.1:p.Arg732Trp | |
| NM_001282545.1:c.898C>T | NP_001269474.1:p.Arg300Trp | |
| NM_001282548.1:c.841C>T | NP_001269477.1:p.Arg281Trp | |
| NM_001282549.1:c.712C>T | NP_001269478.1:p.Arg238Trp | |
| NR_104212.1:n.2244C>T | ||
| NR_104215.1:n.2187C>T | ||
| NR_104216.1:n.1443C>T | ||
| XM_011511567.1:c.2197C>T | XP_011509869.1:p.Arg733Trp | |
| XM_017004613.1:c.2350C>T | XP_016860102.1:p.Arg784Trp | |
| XR_002959322.1:n.2617C>T | ||
| NM_000465.4:c.2251C>T MANE Select | NP_000456.2:p.Arg751Trp | |
| NM_001282543.2:c.2194C>T | NP_001269472.1:p.Arg732Trp | |
| NM_001282545.2:c.898C>T | NP_001269474.1:p.Arg300Trp | |
| NM_001282548.2:c.841C>T | NP_001269477.1:p.Arg281Trp | |
| NM_001282549.2:c.712C>T | NP_001269478.1:p.Arg238Trp | |
| NR_104212.2:n.2216C>T | ||
| NR_104215.2:n.2159C>T | ||
| NR_104216.2:n.1415C>T |