Linked Data
ClinVar Variation Id:
1706180
ClinVar RCV Id:
RCV002284710
dbSNP Id:
rs1663973571
gnomAD v4:
1-236852585-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236852585T>C , CM000663.2:g.236852585T>C | GRCh38 |
| NC_000001.10:g.237015885T>C , CM000663.1:g.237015885T>C | GRCh37 |
| NC_000001.9:g.235082508T>C | NCBI36 |
| NG_008959.1:g.62305T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366577.10:c.1760T>C MANE Select | ENSP00000355536.5:p.Met587Thr | |
| ENST00000535889.6:c.1760T>C | ENSP00000441845.1:p.Met587Thr | |
| ENST00000650888.1:c.*802T>C | ENSP00000498393.1:n.*802T>C | |
| ENST00000651455.1:c.*504T>C | ENSP00000498963.1:n.*504T>C | |
| ENST00000674797.2:c.1412T>C | ENSP00000502299.2:p.Met471Thr | |
| ENST00000679569.1:n.2074T>C | ||
| ENST00000679842.1:c.1760T>C | ENSP00000506109.1:p.Met587Thr | |
| ENST00000680454.1:n.2204T>C | ||
| ENST00000681102.1:c.1580T>C | ENSP00000505600.1:p.Met527Thr | |
| ENST00000681177.1:c.1516-7248T>C | ENSP00000506327.1:n.1516-7248T>C | |
| ENST00000681937.1:n.2148-7248T>C | ||
| ENST00000366576.3:c.422T>C | ENSP00000355535.3:p.Met141Thr | |
| ENST00000366577.9:c.1760T>C | ENSP00000355536.5:p.Met587Thr | |
| ENST00000463959.1:n.1779T>C | ||
| ENST00000535889.5:c.1760T>C | ENSP00000441845.1:p.Met587Thr | |
| NM_000254.2:c.1760T>C | NP_000245.2:p.Met587Thr | |
| NM_001291939.1:c.1760T>C | NP_001278868.1:p.Met587Thr | |
| NM_001291940.1:c.539T>C | NP_001278869.1:p.Met180Thr | |
| XM_005273141.3:c.1757T>C | XP_005273198.1:p.Met586Thr | |
| XM_006711769.2:c.1760T>C | XP_006711832.1:p.Met587Thr | |
| XM_006711770.1:c.824T>C | XP_006711833.1:p.Met275Thr | |
| XM_011544193.1:c.1760T>C | XP_011542495.1:p.Met587Thr | |
| XM_011544194.1:c.1928T>C | XP_011542496.1:p.Met643Thr | |
| XM_005273141.5:c.1757T>C | XP_005273198.1:p.Met586Thr | |
| XM_006711770.3:c.824T>C | XP_006711833.1:p.Met275Thr | |
| XM_011544194.3:c.1928T>C | XP_011542496.1:p.Met643Thr | |
| XM_017001329.2:c.1928T>C | XP_016856818.1:p.Met643Thr | |
| XM_017001330.2:c.1928T>C | XP_016856819.1:p.Met643Thr | |
| NM_001291940.2:c.539T>C | NP_001278869.1:p.Met180Thr | |
| NM_000254.3:c.1760T>C MANE Select | NP_000245.2:p.Met587Thr |