Linked Data
ClinVar Variation Id:
1331535
ClinVar RCV Id:
RCV001806879
dbSNP Id:
rs777459947
ExAC:
1:237015896 C / T
gnomAD v2:
1-237015896-C-T
gnomAD v3:
1-236852596-C-T
gnomAD v4:
1-236852596-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852596C>T , CM000663.2:g.236852596C>T | GRCh38 |
| NC_000001.10:g.237015896C>T , CM000663.1:g.237015896C>T | GRCh37 |
| NC_000001.9:g.235082519C>T | NCBI36 |
| NG_008959.1:g.62316C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1771C>T MANE Select | ENSP00000355536.5:p.Arg591Ter | |
| ENST00000535889.6:c.1771C>T | ENSP00000441845.1:p.Arg591Ter | |
| ENST00000650888.1:c.*813C>T | ENSP00000498393.1:n.*813C>T | |
| ENST00000651455.1:c.*515C>T | ENSP00000498963.1:n.*515C>T | |
| ENST00000674797.2:c.1423C>T | ENSP00000502299.2:p.Arg475Ter | |
| ENST00000679569.1:n.2085C>T | ||
| ENST00000679842.1:c.1771C>T | ENSP00000506109.1:p.Arg591Ter | |
| ENST00000680454.1:n.2215C>T | ||
| ENST00000681102.1:c.1591C>T | ENSP00000505600.1:p.Arg531Ter | |
| ENST00000681177.1:c.1516-7237C>T | ENSP00000506327.1:n.1516-7237C>T | |
| ENST00000681937.1:n.2148-7237C>T | ||
| ENST00000366576.3:c.433C>T | ENSP00000355535.3:p.Arg145Ter | |
| ENST00000366577.9:c.1771C>T | ENSP00000355536.5:p.Arg591Ter | |
| ENST00000463959.1:n.1790C>T | ||
| ENST00000535889.5:c.1771C>T | ENSP00000441845.1:p.Arg591Ter | |
| NM_000254.2:c.1771C>T | NP_000245.2:p.Arg591Ter | |
| NM_001291939.1:c.1771C>T | NP_001278868.1:p.Arg591Ter | |
| NM_001291940.1:c.550C>T | NP_001278869.1:p.Arg184Ter | |
| XM_005273141.3:c.1768C>T | XP_005273198.1:p.Arg590Ter | |
| XM_006711769.2:c.1771C>T | XP_006711832.1:p.Arg591Ter | |
| XM_006711770.1:c.835C>T | XP_006711833.1:p.Arg279Ter | |
| XM_011544193.1:c.1771C>T | XP_011542495.1:p.Arg591Ter | |
| XM_011544194.1:c.1939C>T | XP_011542496.1:p.Arg647Ter | |
| XM_005273141.5:c.1768C>T | XP_005273198.1:p.Arg590Ter | |
| XM_006711770.3:c.835C>T | XP_006711833.1:p.Arg279Ter | |
| XM_011544194.3:c.1939C>T | XP_011542496.1:p.Arg647Ter | |
| XM_017001329.2:c.1939C>T | XP_016856818.1:p.Arg647Ter | |
| XM_017001330.2:c.1939C>T | XP_016856819.1:p.Arg647Ter | |
| NM_001291940.2:c.550C>T | NP_001278869.1:p.Arg184Ter | |
| NM_000254.3:c.1771C>T MANE Select | NP_000245.2:p.Arg591Ter |