Linked Data
ClinVar Variation Id:
490565
dbSNP Id:
rs750427647
ExAC:
11:108160321 T / C
gnomAD v2:
11-108160321-T-C
gnomAD v4:
11-108289594-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108289594T>C , CM000673.2:g.108289594T>C | GRCh38 |
| NC_000011.9:g.108160321T>C , CM000673.1:g.108160321T>C | GRCh37 |
| NC_000011.8:g.107665531T>C | NCBI36 |
| NG_009830.1:g.71763T>C , LRG_135:g.71763T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.4237-8T>C | ENSP00000388058.2:n.4237-8T>C | |
| ENST00000713593.1:c.*3708-8T>C | ENSP00000518889.1:n.*3708-8T>C | |
| ENST00000278616.9:c.4237-8T>C | ENSP00000278616.4:n.4237-8T>C | |
| ENST00000533733.6:n.1500-8T>C | ||
| ENST00000683174.1:n.4387-8T>C | ||
| ENST00000527805.6:c.4237-8T>C | ENSP00000435747.2:n.4237-8T>C | |
| ENST00000675595.1:c.4072-8T>C | ENSP00000502563.1:n.4072-8T>C | |
| ENST00000675843.1:c.4237-8T>C MANE Select | ENSP00000501606.1:n.4237-8T>C | |
| ENST00000278616.8:c.4237-8T>C | ENSP00000278616.4:n.4237-8T>C | |
| ENST00000452508.6:c.4237-8T>C | ENSP00000388058.2:n.4237-8T>C | |
| ENST00000524792.5:n.452-8T>C | ||
| ENST00000531525.2:c.244-8T>C | ENSP00000434327.2:n.244-8T>C | |
| ENST00000533733.5:n.666-8T>C | ||
| NM_000051.3:c.4237-8T>C , LRG_135t1:c.4237-8T>C | NP_000042.3:n.4237-8T>C | |
| XM_005271561.3:c.4237-8T>C | XP_005271618.2:n.4237-8T>C | |
| XM_005271562.3:c.4237-8T>C | XP_005271619.2:n.4237-8T>C | |
| XM_006718843.2:c.4237-8T>C | XP_006718906.1:n.4237-8T>C | |
| XM_006718845.1:c.193-8T>C | XP_006718908.1:n.193-8T>C | |
| XM_011542840.1:c.4237-8T>C | XP_011541142.1:n.4237-8T>C | |
| XM_011542841.1:c.4237-8T>C | XP_011541143.1:n.4237-8T>C | |
| XM_011542842.1:c.4072-8T>C | XP_011541144.1:n.4072-8T>C | |
| XM_011542843.1:c.4237-8T>C | XP_011541145.1:n.4237-8T>C | |
| XM_011542844.1:c.3193-8T>C | XP_011541146.1:n.3193-8T>C | |
| XM_011542845.1:c.2929-8T>C | XP_011541147.1:n.2929-8T>C | |
| XM_011542846.1:c.4237-8T>C | XP_011541148.1:n.4237-8T>C | |
| NM_001351834.1:c.4237-8T>C | NP_001338763.1:n.4237-8T>C | |
| XM_005271562.5:c.4237-8T>C | XP_005271619.2:n.4237-8T>C | |
| XM_006718843.4:c.4237-8T>C | XP_006718906.1:n.4237-8T>C | |
| XM_006718845.2:c.193-8T>C | XP_006718908.1:n.193-8T>C | |
| XM_011542840.3:c.4237-8T>C | XP_011541142.1:n.4237-8T>C | |
| XM_011542842.3:c.4072-8T>C | XP_011541144.1:n.4072-8T>C | |
| XM_011542843.2:c.4237-8T>C | XP_011541145.1:n.4237-8T>C | |
| XM_011542844.3:c.3193-8T>C | XP_011541146.1:n.3193-8T>C | |
| XM_011542845.2:c.2929-8T>C | XP_011541147.1:n.2929-8T>C | |
| XM_017017789.2:c.4237-8T>C | XP_016873278.1:n.4237-8T>C | |
| XM_017017790.2:c.4237-8T>C | XP_016873279.1:n.4237-8T>C | |
| XM_017017791.1:c.4237-8T>C | XP_016873280.1:n.4237-8T>C | |
| XM_017017792.2:c.4237-8T>C | XP_016873281.1:n.4237-8T>C | |
| XR_002957150.1:n.4970-8T>C | ||
| NM_001351834.2:c.4237-8T>C | NP_001338763.1:n.4237-8T>C | |
| NM_000051.4:c.4237-8T>C MANE Select | NP_000042.3:n.4237-8T>C |