Linked Data
ClinVar Variation Id:
231509
dbSNP Id:
rs752870879
ExAC:
2:215595214 C / T
gnomAD v2:
2-215595214-C-T
gnomAD v3:
2-214730490-C-T
gnomAD v4:
2-214730490-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730490C>T , CM000664.2:g.214730490C>T | GRCh38 |
| NC_000002.11:g.215595214C>T , CM000664.1:g.215595214C>T | GRCh37 |
| NC_000002.10:g.215303459C>T | NCBI36 |
| NG_012047.2:g.84215G>A | |
| NG_012047.3:g.84222G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1922G>A MANE Select | ENSP00000260947.4:p.Arg641Gln | |
| ENST00000421162.2:c.569G>A | ENSP00000392245.2:p.Arg190Gln | |
| ENST00000613192.2:c.177G>A | ENSP00000483275.2:p.Thr59= | |
| ENST00000613374.5:c.512G>A | ENSP00000484464.1:p.Arg171Gln | |
| ENST00000613706.5:c.1514G>A | ENSP00000484976.2:p.Arg505Gln | |
| ENST00000617164.5:c.1865G>A | ENSP00000480470.1:p.Arg622Gln | |
| ENST00000619009.5:c.383G>A | ENSP00000482293.1:p.Arg128Gln | |
| ENST00000650978.1:c.3297G>A | ||
| ENST00000260947.8:c.1922G>A | ENSP00000260947.4:p.Arg641Gln | |
| ENST00000421162.1:c.569G>A | ENSP00000392245.1:p.Arg190Gln | |
| ENST00000432456.5:c.19G>A | ||
| ENST00000455743.5:c.*1542G>A | ENSP00000412186.1:n.*1542G>A | |
| ENST00000471590.5:n.257G>A | ||
| ENST00000613192.1:c.92G>A | ENSP00000483275.1:p.Arg31Gln | |
| ENST00000613374.4:c.512G>A | ENSP00000484464.1:p.Arg171Gln | |
| ENST00000613706.4:c.569G>A | ENSP00000484976.1:p.Arg190Gln | |
| ENST00000617164.4:c.1865G>A | ENSP00000480470.1:p.Arg622Gln | |
| ENST00000619009.4:c.383G>A | ENSP00000482293.1:p.Arg128Gln | |
| ENST00000620057.4:c.*588G>A | ENSP00000481988.1:n.*588G>A | |
| NM_000465.3:c.1922G>A | NP_000456.2:p.Arg641Gln | |
| NM_001282543.1:c.1865G>A | NP_001269472.1:p.Arg622Gln | |
| NM_001282545.1:c.569G>A | NP_001269474.1:p.Arg190Gln | |
| NM_001282548.1:c.512G>A | NP_001269477.1:p.Arg171Gln | |
| NM_001282549.1:c.383G>A | NP_001269478.1:p.Arg128Gln | |
| NR_104212.1:n.1915G>A | ||
| NR_104215.1:n.1858G>A | ||
| NR_104216.1:n.1114G>A | ||
| XM_011511567.1:c.1868G>A | XP_011509869.1:p.Arg623Gln | |
| XM_017004613.1:c.2021G>A | XP_016860102.1:p.Arg674Gln | |
| XR_002959322.1:n.2112G>A | ||
| NM_000465.4:c.1922G>A MANE Select | NP_000456.2:p.Arg641Gln | |
| NM_001282543.2:c.1865G>A | NP_001269472.1:p.Arg622Gln | |
| NM_001282545.2:c.569G>A | NP_001269474.1:p.Arg190Gln | |
| NM_001282548.2:c.512G>A | NP_001269477.1:p.Arg171Gln | |
| NM_001282549.2:c.383G>A | NP_001269478.1:p.Arg128Gln | |
| NR_104212.2:n.1887G>A | ||
| NR_104215.2:n.1830G>A | ||
| NR_104216.2:n.1086G>A |