Linked Data
ClinVar Variation Id:
142135
dbSNP Id:
rs2228456
ExAC:
2:215595203 A / G
gnomAD v2:
2-215595203-A-G
gnomAD v3:
2-214730479-A-G
gnomAD v4:
2-214730479-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214730479A>G , CM000664.2:g.214730479A>G | GRCh38 |
| NC_000002.11:g.215595203A>G , CM000664.1:g.215595203A>G | GRCh37 |
| NC_000002.10:g.215303448A>G | NCBI36 |
| NG_012047.2:g.84226T>C | |
| NG_012047.3:g.84233T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1933T>C MANE Select | ENSP00000260947.4:p.Cys645Arg | |
| ENST00000421162.2:c.580T>C | ENSP00000392245.2:p.Cys194Arg | |
| ENST00000613192.2:c.188T>C | ENSP00000483275.2:p.Met63Thr | |
| ENST00000613374.5:c.523T>C | ENSP00000484464.1:p.Cys175Arg | |
| ENST00000613706.5:c.1525T>C | ENSP00000484976.2:p.Cys509Arg | |
| ENST00000617164.5:c.1876T>C | ENSP00000480470.1:p.Cys626Arg | |
| ENST00000619009.5:c.394T>C | ENSP00000482293.1:p.Cys132Arg | |
| ENST00000650978.1:c.3308T>C | ||
| ENST00000260947.8:c.1933T>C | ENSP00000260947.4:p.Cys645Arg | |
| ENST00000421162.1:c.580T>C | ENSP00000392245.1:p.Cys194Arg | |
| ENST00000432456.5:c.30T>C | ||
| ENST00000455743.5:c.*1553T>C | ENSP00000412186.1:n.*1553T>C | |
| ENST00000471590.5:n.268T>C | ||
| ENST00000613192.1:c.103T>C | ENSP00000483275.1:p.Cys35Arg | |
| ENST00000613374.4:c.523T>C | ENSP00000484464.1:p.Cys175Arg | |
| ENST00000613706.4:c.580T>C | ENSP00000484976.1:p.Cys194Arg | |
| ENST00000617164.4:c.1876T>C | ENSP00000480470.1:p.Cys626Arg | |
| ENST00000619009.4:c.394T>C | ENSP00000482293.1:p.Cys132Arg | |
| ENST00000620057.4:c.*599T>C | ENSP00000481988.1:n.*599T>C | |
| NM_000465.3:c.1933T>C | NP_000456.2:p.Cys645Arg | |
| NM_001282543.1:c.1876T>C | NP_001269472.1:p.Cys626Arg | |
| NM_001282545.1:c.580T>C | NP_001269474.1:p.Cys194Arg | |
| NM_001282548.1:c.523T>C | NP_001269477.1:p.Cys175Arg | |
| NM_001282549.1:c.394T>C | NP_001269478.1:p.Cys132Arg | |
| NR_104212.1:n.1926T>C | ||
| NR_104215.1:n.1869T>C | ||
| NR_104216.1:n.1125T>C | ||
| XM_011511567.1:c.1879T>C | XP_011509869.1:p.Cys627Arg | |
| XM_017004613.1:c.2032T>C | XP_016860102.1:p.Cys678Arg | |
| XR_002959322.1:n.2123T>C | ||
| NM_000465.4:c.1933T>C MANE Select | NP_000456.2:p.Cys645Arg | |
| NM_001282543.2:c.1876T>C | NP_001269472.1:p.Cys626Arg | |
| NM_001282545.2:c.580T>C | NP_001269474.1:p.Cys194Arg | |
| NM_001282548.2:c.523T>C | NP_001269477.1:p.Cys175Arg | |
| NM_001282549.2:c.394T>C | NP_001269478.1:p.Cys132Arg | |
| NR_104212.2:n.1898T>C | ||
| NR_104215.2:n.1841T>C | ||
| NR_104216.2:n.1097T>C |