Linked Data
ClinVar Variation Id:
2005834
ClinVar RCV Id:
RCV002825515
MyVariant Identifiers:
chr1:g.237015839A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852539A>C , CM000663.2:g.236852539A>C | GRCh38 |
| NC_000001.10:g.237015839A>C , CM000663.1:g.237015839A>C | GRCh37 |
| NC_000001.9:g.235082462A>C | NCBI36 |
| NG_008959.1:g.62259A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1714A>C MANE Select | ENSP00000355536.5:p.Arg572= | |
| ENST00000535889.6:c.1714A>C | ENSP00000441845.1:p.Arg572= | |
| ENST00000650888.1:c.*756A>C | ENSP00000498393.1:n.*756A>C | |
| ENST00000651455.1:c.*458A>C | ENSP00000498963.1:n.*458A>C | |
| ENST00000674797.2:c.1366A>C | ENSP00000502299.2:p.Arg456= | |
| ENST00000679569.1:n.2028A>C | ||
| ENST00000679842.1:c.1714A>C | ENSP00000506109.1:p.Arg572= | |
| ENST00000680454.1:n.2158A>C | ||
| ENST00000681102.1:c.1534A>C | ENSP00000505600.1:p.Arg512= | |
| ENST00000681177.1:c.1516-7294A>C | ENSP00000506327.1:n.1516-7294A>C | |
| ENST00000681937.1:n.2148-7294A>C | ||
| ENST00000366576.3:c.376A>C | ENSP00000355535.3:p.Arg126= | |
| ENST00000366577.9:c.1714A>C | ENSP00000355536.5:p.Arg572= | |
| ENST00000463959.1:n.1733A>C | ||
| ENST00000535889.5:c.1714A>C | ENSP00000441845.1:p.Arg572= | |
| NM_000254.2:c.1714A>C | NP_000245.2:p.Arg572= | |
| NM_001291939.1:c.1714A>C | NP_001278868.1:p.Arg572= | |
| NM_001291940.1:c.493A>C | NP_001278869.1:p.Arg165= | |
| XM_005273141.3:c.1711A>C | XP_005273198.1:p.Arg571= | |
| XM_006711769.2:c.1714A>C | XP_006711832.1:p.Arg572= | |
| XM_006711770.1:c.778A>C | XP_006711833.1:p.Arg260= | |
| XM_011544193.1:c.1714A>C | XP_011542495.1:p.Arg572= | |
| XM_011544194.1:c.1882A>C | XP_011542496.1:p.Arg628= | |
| XM_005273141.5:c.1711A>C | XP_005273198.1:p.Arg571= | |
| XM_006711770.3:c.778A>C | XP_006711833.1:p.Arg260= | |
| XM_011544194.3:c.1882A>C | XP_011542496.1:p.Arg628= | |
| XM_017001329.2:c.1882A>C | XP_016856818.1:p.Arg628= | |
| XM_017001330.2:c.1882A>C | XP_016856819.1:p.Arg628= | |
| NM_001291940.2:c.493A>C | NP_001278869.1:p.Arg165= | |
| NM_000254.3:c.1714A>C MANE Select | NP_000245.2:p.Arg572= |