Linked Data
ClinVar Variation Id:
142117
dbSNP Id:
rs587782246
ExAC:
2:215593482 C / T
gnomAD v2:
2-215593482-C-T
gnomAD v3:
2-214728758-C-T
gnomAD v4:
2-214728758-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728758C>T , CM000664.2:g.214728758C>T | GRCh38 |
| NC_000002.11:g.215593482C>T , CM000664.1:g.215593482C>T | GRCh37 |
| NC_000002.10:g.215301727C>T | NCBI36 |
| NG_012047.2:g.85947G>A | |
| NG_012047.3:g.85954G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.2252G>A MANE Select | ENSP00000260947.4:p.Arg751Gln | |
| ENST00000421162.2:c.899G>A | ENSP00000392245.2:p.Arg300Gln | |
| ENST00000613192.2:c.*315G>A | ENSP00000483275.2:n.*315G>A | |
| ENST00000613374.5:c.842G>A | ENSP00000484464.1:p.Arg281Gln | |
| ENST00000613706.5:c.1844G>A | ENSP00000484976.2:p.Arg615Gln | |
| ENST00000617164.5:c.2195G>A | ENSP00000480470.1:p.Arg732Gln | |
| ENST00000619009.5:c.713G>A | ENSP00000482293.1:p.Arg238Gln | |
| ENST00000650978.1:c.3627G>A | ||
| ENST00000260947.8:c.2252G>A | ENSP00000260947.4:p.Arg751Gln | |
| ENST00000432456.5:c.395G>A | ||
| ENST00000455743.5:c.*1872G>A | ENSP00000412186.1:n.*1872G>A | |
| ENST00000471590.5:n.587G>A | ||
| ENST00000613192.1:c.422G>A | ENSP00000483275.1:p.Arg141Gln | |
| ENST00000613374.4:c.842G>A | ENSP00000484464.1:p.Arg281Gln | |
| ENST00000613706.4:c.899G>A | ENSP00000484976.1:p.Arg300Gln | |
| ENST00000617164.4:c.2195G>A | ENSP00000480470.1:p.Arg732Gln | |
| ENST00000619009.4:c.713G>A | ENSP00000482293.1:p.Arg238Gln | |
| ENST00000620057.4:c.*918G>A | ENSP00000481988.1:n.*918G>A | |
| NM_000465.3:c.2252G>A | NP_000456.2:p.Arg751Gln | |
| NM_001282543.1:c.2195G>A | NP_001269472.1:p.Arg732Gln | |
| NM_001282545.1:c.899G>A | NP_001269474.1:p.Arg300Gln | |
| NM_001282548.1:c.842G>A | NP_001269477.1:p.Arg281Gln | |
| NM_001282549.1:c.713G>A | NP_001269478.1:p.Arg238Gln | |
| NR_104212.1:n.2245G>A | ||
| NR_104215.1:n.2188G>A | ||
| NR_104216.1:n.1444G>A | ||
| XM_011511567.1:c.2198G>A | XP_011509869.1:p.Arg733Gln | |
| XM_017004613.1:c.2351G>A | XP_016860102.1:p.Arg784Gln | |
| XR_002959322.1:n.2618G>A | ||
| NM_000465.4:c.2252G>A MANE Select | NP_000456.2:p.Arg751Gln | |
| NM_001282543.2:c.2195G>A | NP_001269472.1:p.Arg732Gln | |
| NM_001282545.2:c.899G>A | NP_001269474.1:p.Arg300Gln | |
| NM_001282548.2:c.842G>A | NP_001269477.1:p.Arg281Gln | |
| NM_001282549.2:c.713G>A | NP_001269478.1:p.Arg238Gln | |
| NR_104212.2:n.2217G>A | ||
| NR_104215.2:n.2160G>A | ||
| NR_104216.2:n.1416G>A |