Linked Data
ClinVar Variation Id:
2349
ClinVar RCV Id:
RCV000002440
dbSNP Id:
rs121912604
PubMed:
PMID:17086182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94304583C>T , CM000672.2:g.94304583C>T | GRCh38 |
| NC_000010.10:g.96064340C>T , CM000672.1:g.96064340C>T | GRCh37 |
| NC_000010.9:g.96054330C>T | NCBI36 |
| NG_015799.1:g.315595C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371375.2:c.4636C>T | ENSP00000360426.1:p.Gln1546Ter | |
| ENST00000685253.1:c.*2103C>T | ENSP00000509405.1:n.*2103C>T | |
| ENST00000685889.1:n.2295C>T | ||
| ENST00000686807.1:n.979C>T | ||
| ENST00000686954.1:c.*844C>T | ENSP00000508416.1:n.*844C>T | |
| ENST00000688810.1:c.4588C>T | ENSP00000509140.1:p.Gln1530Ter | |
| ENST00000689233.1:n.9768C>T | ||
| ENST00000690340.1:n.3233C>T | ||
| ENST00000692286.1:c.5428C>T | ENSP00000509490.1:p.Gln1810Ter | |
| ENST00000692396.1:c.5512C>T | ENSP00000508605.1:p.Gln1838Ter | |
| ENST00000371380.8:c.5560C>T MANE Select | ENSP00000360431.2:p.Gln1854Ter | |
| ENST00000371385.8:c.4534C>T | ENSP00000360438.4:p.Gln1512Ter | |
| ENST00000674738.1:c.4115C>T | ||
| ENST00000674827.1:c.3676C>T | ENSP00000502523.1:p.Gln1226Ter | |
| ENST00000675218.1:c.4636C>T | ENSP00000501910.1:p.Gln1546Ter | |
| ENST00000675487.1:c.*1493C>T | ENSP00000502340.1:n.*1493C>T | |
| ENST00000675718.1:c.4829C>T | ||
| ENST00000260766.7:c.5560C>T | ENSP00000260766.3:p.Gln1854Ter | |
| ENST00000371375.1:c.4636C>T | ENSP00000360426.1:p.Gln1546Ter | |
| ENST00000371380.7:c.5560C>T | ENSP00000360431.2:p.Gln1854Ter | |
| ENST00000371385.7:c.4636C>T | ENSP00000360438.3:p.Gln1546Ter | |
| NM_001165979.2:c.4636C>T | NP_001159451.1:p.Gln1546Ter | |
| NM_001288989.1:c.5512C>T | NP_001275918.1:p.Gln1838Ter | |
| NM_016341.3:c.5560C>T | NP_057425.3:p.Gln1854Ter | |
| XM_006717885.2:c.5602C>T | XP_006717948.1:p.Gln1868Ter | |
| XM_006717886.2:c.5602C>T | XP_006717949.1:p.Gln1868Ter | |
| XM_006717888.2:c.5599C>T | XP_006717951.1:p.Gln1867Ter | |
| XM_006717889.2:c.5554C>T | XP_006717952.1:p.Gln1852Ter | |
| XM_006717890.1:c.4678C>T | XP_006717953.1:p.Gln1560Ter | |
| XM_011539849.1:c.5602C>T | XP_011538151.1:p.Gln1868Ter | |
| XM_011539850.1:c.4447C>T | XP_011538152.1:p.Gln1483Ter | |
| XM_006717885.4:c.5602C>T | XP_006717948.1:p.Gln1868Ter | |
| XM_006717888.4:c.5599C>T | XP_006717951.1:p.Gln1867Ter | |
| XM_006717889.4:c.5554C>T | XP_006717952.1:p.Gln1852Ter | |
| XM_006717890.3:c.4678C>T | XP_006717953.1:p.Gln1560Ter | |
| XM_011539849.3:c.5602C>T | XP_011538151.1:p.Gln1868Ter | |
| XM_011539850.3:c.4447C>T | XP_011538152.1:p.Gln1483Ter | |
| XM_017016310.2:c.5602C>T | XP_016871799.1:p.Gln1868Ter | |
| XM_017016311.2:c.5602C>T | XP_016871800.1:p.Gln1868Ter | |
| XM_017016312.2:c.4588C>T | XP_016871801.1:p.Gln1530Ter | |
| NM_001288989.2:c.5512C>T | NP_001275918.1:p.Gln1838Ter | |
| NM_016341.4:c.5560C>T MANE Select | NP_057425.3:p.Gln1854Ter |