Linked Data
ClinVar Variation Id:
132706
ClinVar RCV Id:
RCV000119146
RCV000128919
RCV000246719
RCV001357689
RCV002225348
RCV003315704
RCV001358036
RCV001705877
dbSNP Id:
rs3092829
ExAC:
11:108175394 T / C
gnomAD v2:
11-108175394-T-C
gnomAD v3:
11-108304667-T-C
gnomAD v4:
11-108304667-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108304667T>C , CM000673.2:g.108304667T>C | GRCh38 |
| NC_000011.9:g.108175394T>C , CM000673.1:g.108175394T>C | GRCh37 |
| NC_000011.8:g.107680604T>C | NCBI36 |
| NG_009830.1:g.86836T>C , LRG_135:g.86836T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.5497-8T>C | ENSP00000388058.2:n.5497-8T>C | |
| ENST00000713593.1:c.*4968-8T>C | ENSP00000518889.1:n.*4968-8T>C | |
| ENST00000278616.9:c.5497-8T>C | ENSP00000278616.4:n.5497-8T>C | |
| ENST00000683174.1:n.6981-8T>C | ||
| ENST00000683524.1:n.721-8T>C | ||
| ENST00000684152.1:n.1211-8T>C | ||
| ENST00000527805.6:c.*561-8T>C | ENSP00000435747.2:n.*561-8T>C | |
| ENST00000675595.1:c.*561-8T>C | ENSP00000502563.1:n.*561-8T>C | |
| ENST00000675843.1:c.5497-8T>C MANE Select | ENSP00000501606.1:n.5497-8T>C | |
| ENST00000278616.8:c.5497-8T>C | ENSP00000278616.4:n.5497-8T>C | |
| ENST00000452508.6:c.5497-8T>C | ENSP00000388058.2:n.5497-8T>C | |
| ENST00000524792.5:n.1712-8T>C | ||
| ENST00000529588.5:c.9-8T>C | ||
| ENST00000533690.5:n.901-8T>C | ||
| NM_000051.3:c.5497-8T>C , LRG_135t1:c.5497-8T>C | NP_000042.3:n.5497-8T>C | |
| XM_005271561.3:c.5497-8T>C | XP_005271618.2:n.5497-8T>C | |
| XM_005271562.3:c.5497-8T>C | XP_005271619.2:n.5497-8T>C | |
| XM_006718843.2:c.5497-8T>C | XP_006718906.1:n.5497-8T>C | |
| XM_006718845.1:c.1453-8T>C | XP_006718908.1:n.1453-8T>C | |
| XM_011542840.1:c.5497-8T>C | XP_011541142.1:n.5497-8T>C | |
| XM_011542841.1:c.5497-8T>C | XP_011541143.1:n.5497-8T>C | |
| XM_011542842.1:c.5332-8T>C | XP_011541144.1:n.5332-8T>C | |
| XM_011542843.1:c.5497-8T>C | XP_011541145.1:n.5497-8T>C | |
| XM_011542844.1:c.4453-8T>C | XP_011541146.1:n.4453-8T>C | |
| XM_011542845.1:c.4189-8T>C | XP_011541147.1:n.4189-8T>C | |
| XM_011542847.1:c.568-8T>C | XP_011541149.1:n.568-8T>C | |
| NM_001351834.1:c.5497-8T>C | NP_001338763.1:n.5497-8T>C | |
| XM_005271562.5:c.5497-8T>C | XP_005271619.2:n.5497-8T>C | |
| XM_006718843.4:c.5497-8T>C | XP_006718906.1:n.5497-8T>C | |
| XM_006718845.2:c.1453-8T>C | XP_006718908.1:n.1453-8T>C | |
| XM_011542840.3:c.5497-8T>C | XP_011541142.1:n.5497-8T>C | |
| XM_011542842.3:c.5332-8T>C | XP_011541144.1:n.5332-8T>C | |
| XM_011542843.2:c.5497-8T>C | XP_011541145.1:n.5497-8T>C | |
| XM_011542844.3:c.4453-8T>C | XP_011541146.1:n.4453-8T>C | |
| XM_011542845.2:c.4189-8T>C | XP_011541147.1:n.4189-8T>C | |
| XM_017017789.2:c.5497-8T>C | XP_016873278.1:n.5497-8T>C | |
| XM_017017790.2:c.5497-8T>C | XP_016873279.1:n.5497-8T>C | |
| XM_017017791.1:c.5497-8T>C | XP_016873280.1:n.5497-8T>C | |
| XR_002957150.1:n.6097-8T>C | ||
| NM_001351834.2:c.5497-8T>C | NP_001338763.1:n.5497-8T>C | |
| NM_000051.4:c.5497-8T>C MANE Select | NP_000042.3:n.5497-8T>C |